instruction
stringlengths 30
82
| output
stringlengths 13
790
|
|---|---|
Which condition is asociated with RS1375421660 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/RsRS1375421660 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1375421660 SNP. |
In which chromosome is RS1375421660 SNP located? | It is located in the chromosome 14. |
Which methods support the evidence found for the RS1375421660 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1375421660 SNP, is it benign or pathogenic? | It is Likely pathogenic. |
How long is the variation length for RS1375421660 SNP? | The variation length is 2 base pairs. |
What is the origin for RS1375421660 SNP? | The origin is germline. |
What is the type of genetic variation for RS1375421660 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1375421660 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS137853292 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/RsRS137853292 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853292 SNP. |
In which chromosome is RS137853292 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS137853292 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS137853292 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS137853292 SNP? | The variation length is 1 base pairs. |
What is the origin for RS137853292 SNP? | The origin is germline. |
What is the type of genetic variation for RS137853292 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS137853292 SNP? | The resulting gene consequence is a missense variant. |
Which condition is asociated with RS587776781 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/RsRS587776781 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776781 SNP. |
In which chromosome is RS587776781 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587776781 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS587776781 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587776781 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587776781 SNP? | The origin is somatic. |
What is the type of genetic variation for RS587776781 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS587776781 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with DEL28119? | 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/RsDEL28119. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL28119. |
In which chromosome is DEL28119 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL28119? | Associated methods are: literature only. |
What is the clinical significance of DEL28119, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL28119? | The variation length is None base pairs. |
What is the origin for DEL28119? | The origin is germline. |
What is the type of genetic variation for DEL28119? | The variation is a Deletion. |
Which condition is asociated with RS1555285429 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/RsRS1555285429 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1555285429 SNP. |
In which chromosome is RS1555285429 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1555285429 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS1555285429 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1555285429 SNP? | The variation length is 55 base pairs. |
What is the origin for RS1555285429 SNP? | The origin is germline. |
What is the type of genetic variation for RS1555285429 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS1555285429 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS587776784 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/RsRS587776784 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776784 SNP. |
In which chromosome is RS587776784 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587776784 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS587776784 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587776784 SNP? | The variation length is 10 base pairs. |
What is the origin for RS587776784 SNP? | The origin is germline. |
What is the type of genetic variation for RS587776784 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS587776784 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS587776785 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/RsRS587776785 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776785 SNP. |
In which chromosome is RS587776785 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587776785 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS587776785 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587776785 SNP? | The variation length is 9 base pairs. |
What is the origin for RS587776785 SNP? | The origin is unknown. |
What is the type of genetic variation for RS587776785 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS587776785 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS387906520 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/RsRS387906520 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS387906520 SNP. |
In which chromosome is RS387906520 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS387906520 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS387906520 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS387906520 SNP? | The variation length is 1 base pairs. |
What is the origin for RS387906520 SNP? | The origin is germline. |
What is the type of genetic variation for RS387906520 SNP? | The variation is a single nucleotide variant. |
Which condition is asociated with RS137853295 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/RsRS137853295 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS137853295 SNP. |
In which chromosome is RS137853295 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS137853295 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS137853295 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS137853295 SNP? | The variation length is 1 base pairs. |
What is the origin for RS137853295 SNP? | The origin is germline. |
What is the type of genetic variation for RS137853295 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS137853295 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS587776790 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/RsRS587776790 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776790 SNP. |
In which chromosome is RS587776790 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587776790 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS587776790 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587776790 SNP? | The variation length is 23 base pairs. |
What is the origin for RS587776790 SNP? | The origin is germline. |
What is the type of genetic variation for RS587776790 SNP? | The variation is a Duplication. |
What is the genetic molecular consequence for RS587776790 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS587776791 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/RsRS587776791 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587776791 SNP. |
In which chromosome is RS587776791 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587776791 SNP? | Associated methods are: literature only. |
What is the clinical significance of RS587776791 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587776791 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587776791 SNP? | The origin is germline. |
What is the type of genetic variation for RS587776791 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS587776791 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS587778858 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/RsRS587778858 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778858 SNP. |
In which chromosome is RS587778858 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS587778858 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS587778858 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS587778858 SNP? | The variation length is 1 base pairs. |
What is the origin for RS587778858 SNP? | The origin is somatic. |
What is the type of genetic variation for RS587778858 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS587778858 SNP? | The resulting gene consequence is a nonsense. |
Which condition is asociated with RS1566233014 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/RsRS1566233014 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1566233014 SNP. |
In which chromosome is RS1566233014 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1566233014 SNP? | Associated methods are: research. |
What is the clinical significance of RS1566233014 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1566233014 SNP? | The variation length is None base pairs. |
What is the origin for RS1566233014 SNP? | The origin is somatic. |