SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2475884746 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2475885470 DSPP Health Risk Likely pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2475885503 DSPP Health Risk Likely pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2475886228 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2475886487 DSPP Health Risk Pathogenic Pulp calcification, Pulp calcification
RS2475887311 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2475887343 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2475891095 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2475895954 PKD2 Health Risk Pathogenic PKD2-related disorder, Polycystic kidney disease 2
RS2475895989 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475896175 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475901452 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475901733 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475901770 PKD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 2
RS2475901790 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475901958 PKD2 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease 2
RS2475915193 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475915207 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475915541 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475915681 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475916022 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475916117 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475916759 GABRA4 Health Risk Conflicting classifications of pathogenicity GABRA4-associated disorder, GABRA4-associated disorder
RS2475925118 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475925677 PKD2 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2475925813 PKD2 Health Risk Likely pathogenic PKD2-related disorder, PKD2-related disorder
RS2475928244 PPP3CA Health Risk Pathogenic —
RS2475928286 PPP3CA Health Risk Pathogenic —
RS2475931922 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2475935599 PDCD10 Health Risk Likely pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475935944 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475940136 TRIP12 Health Risk Likely pathogenic TRIP12-related disorder, TRIP12-related disorder
RS2475941629 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475941897 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475942083 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475946632 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2475949002 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2475951656 PPP3CA Health Risk Pathogenic —
RS2475953932 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475954193 PKD2 Health Risk Conflicting classifications of pathogenicity PKD2-related disorder, Polycystic kidney disease 2
RS2475959160 PKD2 Health Risk Likely pathogenic —
RS2475959308 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475959368 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970000 PKD2 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2475970181 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970344 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970407 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475970459 PKD2 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475979108 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475979288 PKD2 Health Risk Pathogenic PKD2-related disorder, Autosomal dominant polycystic kidney disease
RS2475980887 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475986221 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475986648 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475986839 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475986943 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475987388 TACR3 Health Risk Likely pathogenic TACR3-related disorder, TACR3-related disorder
RS2475995676 COL4A4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2475996480 COL4A4 Health Risk Likely pathogenic —
RS2476008710 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476008728 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476008867 PKD2 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2476009603 PKD2 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2476011688 PKD2 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2476011907 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476017155 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2476023716 CENPE Health Risk Likely pathogenic Microcephaly 13, primary
RS2476027523 TRMT10A Health Risk Likely pathogenic —
RS2476027546 TRMT10A Health Risk Pathogenic Microcephaly, short stature
RS2476032136 TRMT10A Health Risk Likely pathogenic Microcephaly, short stature
RS2476038044 CEP135 Health Risk Likely pathogenic —
RS2476038564 CEP135 Health Risk Pathogenic —
RS2476055943 CEP135 Health Risk Pathogenic —
RS2476067663 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2476074113 MTTP Health Risk Pathogenic —
RS2476074124 MTTP Health Risk Likely pathogenic —
RS2476074154 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476086631 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476086722 MTTP Health Risk Pathogenic —
RS2476086913 MTTP Health Risk Pathogenic —
RS2476090042 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090084 MTTP Health Risk Pathogenic —
RS2476090164 MTTP Health Risk Pathogenic —
RS2476090213 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090307 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090399 MTTP Health Risk Likely pathogenic —
RS2476093208 CENPE Health Risk Likely pathogenic Microcephaly 13, primary
RS2476098813 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2476098889 TECRL Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2476102668 MTTP Health Risk Pathogenic —
RS2476102752 MTTP Health Risk Pathogenic —
RS2476103063 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476106449 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476106469 MTTP Health Risk Pathogenic —
RS2476106633 MTTP Health Risk Pathogenic —
RS2476107655 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107722 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107771 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107903 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476113390 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476113393 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
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