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Which condition is asociated with RS1177544722 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/RsRS1177544722 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1177544722 SNP. |
In which chromosome is RS1177544722 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1177544722 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1177544722 SNP, is it benign or pathogenic? | It is Likely benign. |
How long is the variation length for RS1177544722 SNP? | The variation length is 2 base pairs. |
What is the origin for RS1177544722 SNP? | The origin is unknown. |
What is the type of genetic variation for RS1177544722 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1177544722 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1370123231 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/RsRS1370123231 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1370123231 SNP. |
In which chromosome is RS1370123231 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1370123231 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1370123231 SNP, is it benign or pathogenic? | It is Uncertain significance. |
How long is the variation length for RS1370123231 SNP? | The variation length is 8 base pairs. |
What is the origin for RS1370123231 SNP? | The origin is unknown. |
What is the type of genetic variation for RS1370123231 SNP? | The variation is a Insertion. |
What is the genetic molecular consequence for RS1370123231 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 1 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 2 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 3 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 14 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 22 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 2 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS553094345 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/RsRS553094345 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS553094345 SNP. |
In which chromosome is RS553094345 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS553094345 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS553094345 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS553094345 SNP? | The variation length is 3 base pairs. |
What is the origin for RS553094345 SNP? | The origin is unknown. |
What is the type of genetic variation for RS553094345 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS553094345 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS1593539077 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/RsRS1593539077 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593539077 SNP. |
In which chromosome is RS1593539077 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593539077 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1593539077 SNP, is it benign or pathogenic? | It is Benign. |
How long is the variation length for RS1593539077 SNP? | The variation length is 8 base pairs. |
What is the origin for RS1593539077 SNP? | The origin is unknown. |
What is the type of genetic variation for RS1593539077 SNP? | The variation is a Insertion. |
What is the genetic molecular consequence for RS1593539077 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS1593539493 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/RsRS1593539493 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593539493 SNP. |
In which chromosome is RS1593539493 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1593539493 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1593539493 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1593539493 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1593539493 SNP? | The origin is unknown. |
What is the type of genetic variation for RS1593539493 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1593539493 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with DUP820580? | 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/RsDUP820580. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DUP820580. |
In which chromosome is DUP820580 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DUP820580? | Associated methods are: clinical testing. |
What is the clinical significance of DUP820580, is it benign or pathogenic? | It is Likely pathogenic. |
How long is the variation length for DUP820580? | The variation length is 12396 base pairs. |
What is the origin for DUP820580? | The origin is germline. |
What is the type of genetic variation for DUP820580? | The variation is a Duplication. |
Which condition is asociated with DEL820581? | 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/RsDEL820581. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820581. |
In which chromosome is DEL820581 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820581? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820581, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820581? | The variation length is 27099 base pairs. |
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