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
RS2150099393 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS2150102490 ADGRV1 Health Risk Pathogenic —
RS2150102836 ADGRV1 Health Risk Pathogenic —
RS2150102886 ADGRV1 Health Risk Pathogenic —
RS2150103127 COL4A4 Health Risk Pathogenic —
RS2150111242 SCP2 Health Risk Pathogenic —
RS2150115214 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS2150115220 KCNN2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2150117334 CPLANE1 Health Risk Pathogenic —
RS2150120881 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS2150120888 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS2150121906 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS2150125399 CAMTA1 Health Risk Likely pathogenic —
RS2150128117 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS2150128669 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS2150128983 CPLANE1 Health Risk Pathogenic —
RS2150129570 ADGRV1 Health Risk Pathogenic —
RS2150134983 ADGRV1 Health Risk Pathogenic —
RS2150139071 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2150140026 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150140810 CTNNA1 Health Risk Pathogenic —
RS2150146622 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2150149041 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2150160606 CAMTA1 Health Risk Pathogenic/Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Inborn genetic diseases
RS2150160765 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2150172344 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2150172729 COL4A4 Health Risk Pathogenic —
RS2150172922 COL4A4 Health Risk Likely pathogenic —
RS2150186856 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2150187018 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2150187539 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2150187643 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2150188102 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2150188446 ANKRD31 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2150189440 ADGRV1 Health Risk Pathogenic —
RS2150192064 TXNDC15 Health Risk Pathogenic Meckel syndrome 14, Meckel syndrome 14
RS2150219160 COL4A4 Health Risk Pathogenic Benign familial hematuria, Benign familial hematuria
RS2150219679 COL4A4 Health Risk Pathogenic COL4A4-related disorder, COL4A4-related disorder
RS2150220718 COL4A4 Health Risk Pathogenic —
RS2150221180 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2150221409 COL4A4 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2150226544 ADGRV1 Health Risk Pathogenic —
RS2150226813 ADGRV1 Health Risk Pathogenic —
RS2150228286 ADGRV1 Health Risk Pathogenic —
RS2150231769 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2150233956 CTNNA1 Health Risk Pathogenic —
RS2150234047 CTNNA1 Health Risk Pathogenic —
RS2150234200 CTNNA1 Health Risk Pathogenic —
RS2150234491 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2150234919 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2150235414 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2150236110 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2150236148 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2150238934 CLCN3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS2150239329 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2150239487 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2150239689 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2150239870 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS2150239907 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2150240574 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2150240582 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2150245534 PPP2R5D Health Risk Conflicting classifications of pathogenicity —
RS2150246636 CLCN3 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with seizures and brain abnormalities
RS2150247662 C6 Health Risk Pathogenic —
RS2150249648 COL4A4 Health Risk Pathogenic —
RS2150249865 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss
RS2150250774 COL4A4 Health Risk Likely pathogenic Hematuria, benign familial
RS2150251009 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, COL4A4-related disorder
RS2150254146 CLCN3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS2150258844 C6 Health Risk Likely pathogenic —
RS2150267036 CLCN3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS2150273700 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2150274994 CLCN3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS2150275391 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2150275655 COL4A4 Health Risk Pathogenic —
RS2150276003 COL4A4 Health Risk Pathogenic —
RS2150276476 COL4A4 Health Risk Pathogenic —
RS2150277040 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS2150277252 COL4A4 Health Risk Pathogenic —
RS2150277532 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150278470 PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS2150278773 PPP2R5D Health Risk Likely pathogenic Encephalopathy, Encephalopathy
RS2150278800 PPP2R5D Health Risk Likely pathogenic —
RS2150278804 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, Inborn genetic diseases
RS2150278805 PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS2150279502 CAMK2A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 53
RS2150279781 PPP2R5D Health Risk Pathogenic —
RS2150280830 CAMK2A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 53
RS2150286198 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150286291 EYS Health Risk Pathogenic —
RS2150287805 CTNNA1 Health Risk Likely pathogenic Polyposis syndrome, hereditary mixed
RS2150288001 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2150288180 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150288556 COL4A4 Health Risk Likely pathogenic —
RS2150289336 CTNNA1 Health Risk Pathogenic —
RS2150289433 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2150295101 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2150301177 ADGRV1 Health Risk Pathogenic —
RS2150301547 C6 Health Risk Pathogenic —
RS2150301790 ADGRV1 Health Risk Pathogenic —
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