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
RS2110133917 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110133920 PKD2 Health Risk Pathogenic/Likely pathogenic Hyperechogenic kidneys, Multiple renal cysts
RS2110133998 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110134005 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2110137964 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110138755 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110139489 CNGA1 Health Risk Pathogenic —
RS2110141387 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110141740 CNGA1 Health Risk Likely pathogenic —
RS2110150747 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110155552 FRAS1 Health Risk Pathogenic Renal agenesis, Renal agenesis
RS2110157889 CNGA1 Health Risk Pathogenic —
RS2110165980 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2110167415 ANKRD17 Health Risk Pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2110190526 PPP3CA Health Risk Likely pathogenic —
RS2110193521 HTT Health Risk Pathogenic —
RS2110205188 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS2110205238 PPP3CA Health Risk Pathogenic —
RS2110210889 PPP3CA Health Risk Likely pathogenic —
RS2110211759 MTTP Health Risk Pathogenic —
RS2110212658 MTTP Health Risk Pathogenic —
RS2110212747 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2110217058 MTTP Health Risk Pathogenic —
RS2110217173 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2110217457 RAP1GDS1 Health Risk Pathogenic Alfadhel syndrome, Alfadhel syndrome
RS2110218614 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2110222141 MTTP Health Risk Pathogenic —
RS2110222234 MTTP Health Risk Pathogenic —
RS2110222265 MTTP Health Risk Pathogenic —
RS2110225080 PPP3CA Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 91, Arthrogryposis
RS2110225482 MTTP Health Risk Likely pathogenic —
RS2110228616 MTTP Health Risk Pathogenic —
RS2110230118 MTTP Health Risk Pathogenic —
RS2110230146 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Metabolic syndrome X
RS2110230220 MTTP Health Risk Pathogenic —
RS2110230260 MTTP Health Risk Pathogenic —
RS2110231198 TET2 Health Risk Pathogenic Myelodysplastic syndrome, Myelodysplastic syndrome
RS2110231743 MTTP Health Risk Pathogenic —
RS2110232389 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2110233238 MTTP Health Risk Pathogenic —
RS2110234873 TET2 Health Risk Pathogenic —
RS2110237031 MTTP Health Risk Pathogenic —
RS2110237126 MTTP Health Risk Pathogenic —
RS2110237946 TET2 Health Risk Pathogenic —
RS2110238237 MTTP Health Risk Likely pathogenic —
RS2110238242 MTTP Health Risk Pathogenic —
RS2110243783 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2110249286 TET2 Health Risk Pathogenic —
RS2110249810 PPP3CA Health Risk Likely pathogenic —
RS2110249848 PPP3CA Health Risk Conflicting classifications of pathogenicity —
RS2110253722 PPP3CA Health Risk Likely pathogenic Developmental and epileptic encephalopathy 91, Arthrogryposis
RS2110266368 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2110266515 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2110266987 LEF1 Health Risk Pathogenic Ectrodactyly, Ectodermal dysplasia 17 with or without limb malformations
RS2110269472 HTT Health Risk Pathogenic —
RS2110293461 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2110296349 HTT Health Risk Likely pathogenic —
RS2110296712 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2110306146 TET2 Health Risk Pathogenic —
RS2110315013 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2110319166 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2110325478 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2110330572 FRAS1 Health Risk Pathogenic —
RS2110338263 PDGFRA Health Risk Pathogenic Polyps, multiple and recurrent inflammatory fibroid
RS2110348535 PPP3CA Health Risk Likely pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS2110353283 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS2110390266 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2110420831 SEC24D Health Risk Pathogenic —
RS2110431524 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS2110432091 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS2110433384 LEF1 Health Risk Pathogenic Ectrodactyly and ectodermal dysplasia without cleft lip/palate, Ectrodactyly and ectodermal dysplasia without cleft lip/palate
RS2110435639 PITX2 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2110435645 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS2110435742 PITX2 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS2110435882 PITX2 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2110525413 SNCA Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4
RS2110800853 NAA15 Health Risk Likely pathogenic —
RS2110806028 FGA Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS2110808262 FGA Health Risk Likely pathogenic —
RS2110812642 FGA Health Risk Pathogenic —
RS2110819800 FGA Health Risk Likely pathogenic —
RS2110841438 FGG Health Risk Conflicting classifications of pathogenicity —
RS2110850824 FGG Health Risk Pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS2110894530 NAF1 Health Risk Likely pathogenic —
RS2110895965 NAA15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 50
RS2110902008 NAA15 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2110911005 NAA15 Health Risk Pathogenic —
RS2110911054 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2110915238 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2110915306 NAA15 Health Risk Pathogenic —
RS2110930000 NAA15 Health Risk Pathogenic —
RS2110930005 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2110930242 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2110934149 NAA15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 50
RS2110935003 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2110935239 NAA15 Health Risk Pathogenic Autism, Autism
RS2110941169 NAA15 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2110941246 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2110948948 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2110949021 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
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