Toyokolabs/retinoblastoma · Datasets at Hugging Face

instruction stringlengths 30 82	output stringlengths 13 790
Which methods support the evidence found for the RS572454921 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS572454921 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS572454921 SNP?	The variation length is 9 base pairs.
What is the origin for RS572454921 SNP?	The origin is germline.
What is the type of genetic variation for RS572454921 SNP?	The variation is a Deletion.
What is the genetic molecular consequence for RS572454921 SNP?	The resulting gene consequence is a inframe_deletion.
Which condition is asociated with RS4151624 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/RsRS4151624 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS4151624 SNP.
In which chromosome is RS4151624 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS4151624 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS4151624 SNP, is it benign or pathogenic?	It is Benign/Likely benign.
How long is the variation length for RS4151624 SNP?	The variation length is 1 base pairs.
What is the origin for RS4151624 SNP?	The origin is unknown.
What is the type of genetic variation for RS4151624 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS4151624 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS9535023 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/RsRS9535023 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS9535023 SNP.
In which chromosome is RS9535023 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS9535023 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS9535023 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS9535023 SNP?	The variation length is 1 base pairs.
What is the origin for RS9535023 SNP?	The origin is germline.
What is the type of genetic variation for RS9535023 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS9535023 SNP?	The resulting gene consequence is a intron variant.
Which condition is asociated with RS753117180 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/RsRS753117180 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS753117180 SNP.
In which chromosome is RS753117180 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS753117180 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS753117180 SNP, is it benign or pathogenic?	It is Conflicting interpretations of pathogenicity.
How long is the variation length for RS753117180 SNP?	The variation length is 1 base pairs.
What is the origin for RS753117180 SNP?	The origin is germline.
What is the type of genetic variation for RS753117180 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS753117180 SNP?	The resulting gene consequence is a 5 prime UTR variant.
Which condition is asociated with RS375751988 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/RsRS375751988 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS375751988 SNP.
In which chromosome is RS375751988 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS375751988 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS375751988 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS375751988 SNP?	The variation length is 1 base pairs.
What is the origin for RS375751988 SNP?	The origin is germline.
What is the type of genetic variation for RS375751988 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS375751988 SNP?	The resulting gene consequence is a synonymous variant.
Which condition is asociated with RS587778823 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/RsRS587778823 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778823 SNP.
In which chromosome is RS587778823 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS587778823 SNP?	Associated methods are: research, clinical testing.
What is the clinical significance of RS587778823 SNP, is it benign or pathogenic?	It is Likely benign.
How long is the variation length for RS587778823 SNP?	The variation length is 3 base pairs.
What is the origin for RS587778823 SNP?	The origin is germline.
What is the type of genetic variation for RS587778823 SNP?	The variation is a Microsatellite.
What is the genetic molecular consequence for RS587778823 SNP?	The resulting gene consequence is a inframe_deletion.
Which condition is asociated with RS150115447 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/RsRS150115447 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS150115447 SNP.
In which chromosome is RS150115447 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS150115447 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS150115447 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS150115447 SNP?	The variation length is 1 base pairs.
What is the origin for RS150115447 SNP?	The origin is germline.
What is the type of genetic variation for RS150115447 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS150115447 SNP?	The resulting gene consequence is a synonymous variant.
Which condition is asociated with RS864622373 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/RsRS864622373 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS864622373 SNP.
In which chromosome is RS864622373 SNP located?	It is located in the chromosome 17.
Which methods support the evidence found for the RS864622373 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS864622373 SNP, is it benign or pathogenic?	It is Uncertain significance.
How long is the variation length for RS864622373 SNP?	The variation length is 1 base pairs.
What is the origin for RS864622373 SNP?	The origin is germline.
What is the type of genetic variation for RS864622373 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS864622373 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS143105337 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/RsRS143105337 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS143105337 SNP.
In which chromosome is RS143105337 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS143105337 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS143105337 SNP, is it benign or pathogenic?	It is Likely benign.
How long is the variation length for RS143105337 SNP?	The variation length is 1 base pairs.
What is the origin for RS143105337 SNP?	The origin is germline.
What is the type of genetic variation for RS143105337 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS143105337 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS3092902 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/RsRS3092902 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS3092902 SNP.
In which chromosome is RS3092902 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS3092902 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS3092902 SNP, is it benign or pathogenic?	It is Benign.
How long is the variation length for RS3092902 SNP?	The variation length is 1 base pairs.
What is the origin for RS3092902 SNP?	The origin is germline.
What is the type of genetic variation for RS3092902 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS3092902 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS373601944 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/RsRS373601944 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS373601944 SNP.
In which chromosome is RS373601944 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS373601944 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS373601944 SNP, is it benign or pathogenic?	It is Likely benign.
How long is the variation length for RS373601944 SNP?	The variation length is 1 base pairs.
What is the origin for RS373601944 SNP?	The origin is germline.
What is the type of genetic variation for RS373601944 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS373601944 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS142509759 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/RsRS142509759 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS142509759 SNP.
In which chromosome is RS142509759 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS142509759 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS142509759 SNP, is it benign or pathogenic?	It is Benign/Likely benign.
How long is the variation length for RS142509759 SNP?	The variation length is 1 base pairs.
What is the origin for RS142509759 SNP?	The origin is germline.
What is the type of genetic variation for RS142509759 SNP?	The variation is a single nucleotide variant.
What is the genetic molecular consequence for RS142509759 SNP?	The resulting gene consequence is a missense variant.
Which condition is asociated with RS148327780 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/RsRS148327780 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS148327780 SNP.
In which chromosome is RS148327780 SNP located?	It is located in the chromosome 13.
Which methods support the evidence found for the RS148327780 SNP?	Associated methods are: clinical testing.
What is the clinical significance of RS148327780 SNP, is it benign or pathogenic?	It is Likely benign.
How long is the variation length for RS148327780 SNP?	The variation length is 1 base pairs.
What is the origin for RS148327780 SNP?	The origin is germline.

Which methods support the evidence found for the RS572454921 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS572454921 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS572454921 SNP?

The variation length is 9 base pairs.

What is the origin for RS572454921 SNP?

The origin is germline.

What is the type of genetic variation for RS572454921 SNP?

The variation is a Deletion.

What is the genetic molecular consequence for RS572454921 SNP?

The resulting gene consequence is a inframe_deletion.

Which condition is asociated with RS4151624 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/RsRS4151624 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS4151624 SNP.

In which chromosome is RS4151624 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS4151624 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS4151624 SNP, is it benign or pathogenic?

It is Benign/Likely benign.

How long is the variation length for RS4151624 SNP?

The variation length is 1 base pairs.

What is the origin for RS4151624 SNP?

The origin is unknown.

What is the type of genetic variation for RS4151624 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS4151624 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with RS9535023 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/RsRS9535023 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS9535023 SNP.

In which chromosome is RS9535023 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS9535023 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS9535023 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS9535023 SNP?

The variation length is 1 base pairs.

What is the origin for RS9535023 SNP?

The origin is germline.

What is the type of genetic variation for RS9535023 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS9535023 SNP?

The resulting gene consequence is a intron variant.

Which condition is asociated with RS753117180 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/RsRS753117180 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS753117180 SNP.

In which chromosome is RS753117180 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS753117180 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS753117180 SNP, is it benign or pathogenic?

It is Conflicting interpretations of pathogenicity.

How long is the variation length for RS753117180 SNP?

The variation length is 1 base pairs.

What is the origin for RS753117180 SNP?

The origin is germline.

What is the type of genetic variation for RS753117180 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS753117180 SNP?

The resulting gene consequence is a 5 prime UTR variant.

Which condition is asociated with RS375751988 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/RsRS375751988 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS375751988 SNP.

In which chromosome is RS375751988 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS375751988 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS375751988 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS375751988 SNP?

The variation length is 1 base pairs.

What is the origin for RS375751988 SNP?

The origin is germline.

What is the type of genetic variation for RS375751988 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS375751988 SNP?

The resulting gene consequence is a synonymous variant.

Which condition is asociated with RS587778823 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/RsRS587778823 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778823 SNP.

In which chromosome is RS587778823 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS587778823 SNP?

Associated methods are: research, clinical testing.

What is the clinical significance of RS587778823 SNP, is it benign or pathogenic?

It is Likely benign.

How long is the variation length for RS587778823 SNP?

The variation length is 3 base pairs.

What is the origin for RS587778823 SNP?

The origin is germline.

What is the type of genetic variation for RS587778823 SNP?

The variation is a Microsatellite.

What is the genetic molecular consequence for RS587778823 SNP?

The resulting gene consequence is a inframe_deletion.

Which condition is asociated with RS150115447 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/RsRS150115447 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS150115447 SNP.

In which chromosome is RS150115447 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS150115447 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS150115447 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS150115447 SNP?

The variation length is 1 base pairs.

What is the origin for RS150115447 SNP?

The origin is germline.

What is the type of genetic variation for RS150115447 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS150115447 SNP?

The resulting gene consequence is a synonymous variant.

Which condition is asociated with RS864622373 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/RsRS864622373 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS864622373 SNP.

In which chromosome is RS864622373 SNP located?

It is located in the chromosome 17.

Which methods support the evidence found for the RS864622373 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS864622373 SNP, is it benign or pathogenic?

It is Uncertain significance.

How long is the variation length for RS864622373 SNP?

The variation length is 1 base pairs.

What is the origin for RS864622373 SNP?

The origin is germline.

What is the type of genetic variation for RS864622373 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS864622373 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS143105337 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/RsRS143105337 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS143105337 SNP.

In which chromosome is RS143105337 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS143105337 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS143105337 SNP, is it benign or pathogenic?

It is Likely benign.

How long is the variation length for RS143105337 SNP?

The variation length is 1 base pairs.

What is the origin for RS143105337 SNP?

The origin is germline.

What is the type of genetic variation for RS143105337 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS143105337 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS3092902 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/RsRS3092902 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS3092902 SNP.

In which chromosome is RS3092902 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS3092902 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS3092902 SNP, is it benign or pathogenic?

It is Benign.

How long is the variation length for RS3092902 SNP?

The variation length is 1 base pairs.

What is the origin for RS3092902 SNP?

The origin is germline.

What is the type of genetic variation for RS3092902 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS3092902 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS373601944 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/RsRS373601944 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS373601944 SNP.

In which chromosome is RS373601944 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS373601944 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS373601944 SNP, is it benign or pathogenic?

It is Likely benign.

How long is the variation length for RS373601944 SNP?

The variation length is 1 base pairs.

What is the origin for RS373601944 SNP?

The origin is germline.

What is the type of genetic variation for RS373601944 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS373601944 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS142509759 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/RsRS142509759 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS142509759 SNP.

In which chromosome is RS142509759 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS142509759 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS142509759 SNP, is it benign or pathogenic?

It is Benign/Likely benign.

How long is the variation length for RS142509759 SNP?

The variation length is 1 base pairs.

What is the origin for RS142509759 SNP?

The origin is germline.

What is the type of genetic variation for RS142509759 SNP?

The variation is a single nucleotide variant.

What is the genetic molecular consequence for RS142509759 SNP?

The resulting gene consequence is a missense variant.

Which condition is asociated with RS148327780 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/RsRS148327780 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS148327780 SNP.

In which chromosome is RS148327780 SNP located?

It is located in the chromosome 13.

Which methods support the evidence found for the RS148327780 SNP?

Associated methods are: clinical testing.

What is the clinical significance of RS148327780 SNP, is it benign or pathogenic?

It is Likely benign.

How long is the variation length for RS148327780 SNP?

The variation length is 1 base pairs.

What is the origin for RS148327780 SNP?

The origin is germline.