Toyokolabs/retinoblastoma · Datasets at Hugging Face

instruction stringlengths 30 82	output stringlengths 13 790
What is the clinical significance of RS1593457138 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS1593457138 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593457138 SNP?	The origin is germline.
What is the type of genetic variation for RS1593457138 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1593457138 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS1593529861 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593529861 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593529861 SNP.
In which chromosome is RS1593529861 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593529861 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593529861 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS1593529861 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593529861 SNP?	The origin is germline.
What is the type of genetic variation for RS1593529861 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1593529861 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with DEL652281?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL652281. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL652281.
In which chromosome is DEL652281 located?	It is located in the chromosome 13.
Which methods support the evidence found for the DEL652281?	Associated methods are: clinical testing.
What is the clinical significance of DEL652281, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for DEL652281?	The variation length is 41764 base pairs.
What is the origin for DEL652281?	The origin is germline.
What is the type of genetic variation for DEL652281?	The variation is a Deletion.
Which condition is asociated with RS1593434175 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593434175 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593434175 SNP.
In which chromosome is RS1593434175 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593434175 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593434175 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1593434175 SNP?	The variation length is 5 base pairs.
What is the origin for RS1593434175 SNP?	The origin is germline.
What is the type of genetic variation for RS1593434175 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1593434175 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1593448511 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593448511 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593448511 SNP.
In which chromosome is RS1593448511 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593448511 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593448511 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS1593448511 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593448511 SNP?	The origin is germline.
What is the type of genetic variation for RS1593448511 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1593448511 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS1593454115 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593454115 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593454115 SNP.
In which chromosome is RS1593454115 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593454115 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593454115 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1593454115 SNP?	The variation length is 2 base pairs.
What is the origin for RS1593454115 SNP?	The origin is germline.
What is the type of genetic variation for RS1593454115 SNP?	The variation is a Duplication.
What is the genetic molecular consequence for RS1593454115 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1593411974 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593411974 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593411974 SNP.
In which chromosome is RS1593411974 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593411974 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593411974 SNP, is it benign or pathogenic?	It is Likely pathogenic.
How long is the variation length for RS1593411974 SNP?	The variation length is 32 base pairs.
What is the origin for RS1593411974 SNP?	The origin is unknown.
What is the type of genetic variation for RS1593411974 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1593411974 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1312883856 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1312883856 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1312883856 SNP.
In which chromosome is RS1312883856 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1312883856 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1312883856 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS1312883856 SNP?	The variation length is 1 base pairs.
What is the origin for RS1312883856 SNP?	The origin is unknown.
What is the type of genetic variation for RS1312883856 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1312883856 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS1593443469 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593443469 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593443469 SNP.
In which chromosome is RS1593443469 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593443469 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593443469 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS1593443469 SNP?	The variation length is 6 base pairs.
What is the origin for RS1593443469 SNP?	The origin is unknown.
What is the type of genetic variation for RS1593443469 SNP?	The variation is a Insertion.
What is the genetic molecular consequence for RS1593443469 SNP?	The resulting gene consequence is a inframe_indel.
Which condition is asociated with RS1593443514 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593443514 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593443514 SNP.
In which chromosome is RS1593443514 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1593443514 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1593443514 SNP, is it benign or pathogenic?	It is Pathogenic.
How long is the variation length for RS1593443514 SNP?	The variation length is 1 base pairs.
What is the origin for RS1593443514 SNP?	The origin is unknown.
What is the type of genetic variation for RS1593443514 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS1593443514 SNP?	The resulting gene consequence is a frameshift variant.
Which condition is asociated with RS1285629437 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1285629437 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1285629437 SNP.
In which chromosome is RS1285629437 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS1285629437 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS1285629437 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS1285629437 SNP?	The variation length is 1 base pairs.
What is the origin for RS1285629437 SNP?	The origin is unknown.
What is the type of genetic variation for RS1285629437 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS1285629437 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS955333850 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS955333850 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS955333850 SNP.
In which chromosome is RS955333850 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS955333850 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS955333850 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS955333850 SNP?	The variation length is 1 base pairs.
What is the origin for RS955333850 SNP?	The origin is unknown.
What is the type of genetic variation for RS955333850 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS955333850 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS749894411 SNP?	Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS749894411 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS749894411 SNP.
In which chromosome is RS749894411 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS749894411 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS749894411 SNP, is it benign or pathogenic?	It is Likely benign.
How long is the variation length for RS749894411 SNP?	The variation length is 1 base pairs.
What is the origin for RS749894411 SNP?	The origin is unknown.
What is the type of genetic variation for RS749894411 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS749894411 SNP?	The resulting gene consequence is a intron variant.

What is the clinical significance of RS1593457138 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS1593457138 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593457138 SNP?

The origin is germline.

What is the type of genetic variation for RS1593457138 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1593457138 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS1593529861 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593529861 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593529861 SNP.

In which chromosome is RS1593529861 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593529861 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593529861 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS1593529861 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593529861 SNP?

The origin is germline.

What is the type of genetic variation for RS1593529861 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1593529861 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with DEL652281?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL652281. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL652281.

In which chromosome is DEL652281 located?

It is located in the chromosome 13.

Which methods support the evidence found for the DEL652281?

Associated methods are: clinical testing.

What is the clinical significance of DEL652281, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for DEL652281?

The variation length is 41764 base pairs.

What is the origin for DEL652281?

The origin is germline.

What is the type of genetic variation for DEL652281?

The variation is a Deletion.

Which condition is asociated with RS1593434175 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593434175 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593434175 SNP.

In which chromosome is RS1593434175 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593434175 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593434175 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1593434175 SNP?

The variation length is 5 base pairs.

What is the origin for RS1593434175 SNP?

The origin is germline.

What is the type of genetic variation for RS1593434175 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS1593434175 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1593448511 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593448511 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593448511 SNP.

In which chromosome is RS1593448511 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593448511 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593448511 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS1593448511 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593448511 SNP?

The origin is germline.

What is the type of genetic variation for RS1593448511 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1593448511 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with RS1593454115 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593454115 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593454115 SNP.

In which chromosome is RS1593454115 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593454115 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593454115 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1593454115 SNP?

The variation length is 2 base pairs.

What is the origin for RS1593454115 SNP?

The origin is germline.

What is the type of genetic variation for RS1593454115 SNP?

The variation is a Duplication.

What is the genetic molecular consequence for RS1593454115 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1593411974 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593411974 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593411974 SNP.

In which chromosome is RS1593411974 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593411974 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593411974 SNP, is it benign or pathogenic?

It is Likely pathogenic.

How long is the variation length for RS1593411974 SNP?

The variation length is 32 base pairs.

What is the origin for RS1593411974 SNP?

The origin is unknown.

What is the type of genetic variation for RS1593411974 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS1593411974 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1312883856 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1312883856 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1312883856 SNP.

In which chromosome is RS1312883856 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1312883856 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1312883856 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS1312883856 SNP?

The variation length is 1 base pairs.

What is the origin for RS1312883856 SNP?

The origin is unknown.

What is the type of genetic variation for RS1312883856 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1312883856 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS1593443469 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593443469 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593443469 SNP.

In which chromosome is RS1593443469 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593443469 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593443469 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS1593443469 SNP?

The variation length is 6 base pairs.

What is the origin for RS1593443469 SNP?

The origin is unknown.

What is the type of genetic variation for RS1593443469 SNP?

The variation is a Insertion.

What is the genetic molecular consequence for RS1593443469 SNP?

The resulting gene consequence is a inframe_indel.

Which condition is asociated with RS1593443514 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593443514 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593443514 SNP.

In which chromosome is RS1593443514 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1593443514 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1593443514 SNP, is it benign or pathogenic?

It is Pathogenic.

How long is the variation length for RS1593443514 SNP?

The variation length is 1 base pairs.

What is the origin for RS1593443514 SNP?

The origin is unknown.

What is the type of genetic variation for RS1593443514 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS1593443514 SNP?

The resulting gene consequence is a frameshift variant.

Which condition is asociated with RS1285629437 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1285629437 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1285629437 SNP.

In which chromosome is RS1285629437 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS1285629437 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS1285629437 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS1285629437 SNP?

The variation length is 1 base pairs.

What is the origin for RS1285629437 SNP?

The origin is unknown.

What is the type of genetic variation for RS1285629437 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS1285629437 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with RS955333850 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS955333850 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS955333850 SNP.

In which chromosome is RS955333850 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS955333850 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS955333850 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS955333850 SNP?

The variation length is 1 base pairs.

What is the origin for RS955333850 SNP?

The origin is unknown.

What is the type of genetic variation for RS955333850 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS955333850 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with RS749894411 SNP?

Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS749894411 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS749894411 SNP.

In which chromosome is RS749894411 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS749894411 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS749894411 SNP, is it benign or pathogenic?

It is Likely benign.

How long is the variation length for RS749894411 SNP?

The variation length is 1 base pairs.

What is the origin for RS749894411 SNP?

The origin is unknown.

What is the type of genetic variation for RS749894411 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS749894411 SNP?

The resulting gene consequence is a intron variant.