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
RS2141861740 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2141862610 GNPTG Health Risk Pathogenic —
RS2141862900 GNPTG Health Risk Pathogenic —
RS2141863595 GNPTG Health Risk Pathogenic —
RS2141863669 GNPTG Health Risk Pathogenic —
RS2141863683 GNPTG Health Risk Pathogenic —
RS2141863931 GNPTG Health Risk Likely pathogenic —
RS2141864067 GNPTG Health Risk Pathogenic —
RS2141864091 GNPTG Health Risk Pathogenic —
RS2141864128 GNPTG Health Risk Pathogenic —
RS2141864300 GNPTG Health Risk Pathogenic —
RS2141864418 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS2141867280 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141867643 CHD2 Health Risk Pathogenic —
RS2141867671 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141870681 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2141871764 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141871936 TBC1D24 Health Risk Pathogenic —
RS2141871997 TBC1D24 Health Risk Likely pathogenic —
RS2141872114 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2141872119 TBC1D24 Health Risk Pathogenic Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, Developmental and epileptic encephalopathy
RS2141872348 TBC1D24 Health Risk Pathogenic Caused by mutation in the TBC1 domain family, member 24
RS2141872499 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2141873582 TBC1D24 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2141873663 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141873672 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141873750 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141875717 TBC1D24 Health Risk Likely pathogenic —
RS2141876515 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141876542 CHD2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2141876985 TBC1D24 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2141877166 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2141881521 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141881607 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141881688 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141882563 IFT140 Health Risk Pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2141888378 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141895144 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141895289 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2141899833 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141901872 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2141902503 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS2141902589 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141902592 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141905980 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2141906388 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2141907691 NPRL3 Health Risk Pathogenic Inborn genetic diseases, Epilepsy
RS2141908063 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141909104 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2141917789 MEIS2 Health Risk Pathogenic Cardiac malformation, cleft lip/palate
RS2141918318 MEIS2 Health Risk Pathogenic/Likely pathogenic Cardiac malformation, cleft lip/palate
RS2141920098 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141925052 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141925225 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141925510 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS2141925983 CIB2 Health Risk Pathogenic —
RS2141926322 UQCRC2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
RS2141927529 PDZD9;UQCRC2 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
RS2141934667 IDH3A Health Risk Pathogenic —
RS2141939548 MAPK8IP3 Health Risk Likely pathogenic —
RS2141940032 ERCC4 Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS2141942213 IDH3A Health Risk Pathogenic —
RS2141944936 ERCC4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS2141946055 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS2141946068 ERCC4 Health Risk Likely pathogenic Fanconi anemia complementation group Q, Fanconi anemia complementation group Q
RS2141946070 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141946259 ERCC4 Health Risk Likely pathogenic Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues
RS2141946607 SCNN1G Health Risk Pathogenic Liddle syndrome 2, Liddle syndrome 2
RS2141950064 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141950212 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141950334 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141957171 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS2141960559 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141960644 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141960699 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141962944 ADAMTS17 Health Risk Likely pathogenic —
RS2141981312 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2141993907 KIF7 Health Risk Likely pathogenic —
RS2141995468 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2141995568 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS2142001776 CETP Health Risk Pathogenic Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS2142004122 STRA6 Health Risk Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS2142018005 HBA2 Health Risk Pathogenic Heinz body anemia, Heinz body anemia
RS2142020387 SCNN1B Health Risk Pathogenic Pseudohypoaldosteronism, type IB1
RS2142021563 HBA1 Health Risk Pathogenic —
RS2142028862 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Hydrolethalus syndrome 2
RS2142041186 IFT140 Health Risk Likely pathogenic —
RS2142050610 SCNN1B Health Risk Pathogenic Liddle syndrome 1, Liddle syndrome 1
RS2142072159 CAPN15 Health Risk Pathogenic Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
RS2142076836 MEIOB Health Risk Pathogenic Azoospermia, Azoospermia
RS2142079953 ADAMTS17 Health Risk Pathogenic Weill-Marchesani 4 syndrome, recessive
RS2142084042 CAPN15 Health Risk Pathogenic Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
RS2142085042 CAPN15 Health Risk Pathogenic Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
RS2142086271 CAPN15 Health Risk Pathogenic Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
RS2142086863 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS2142090708 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142090831 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142097906 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142099151 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2142100542 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
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