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
RS774435749 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, ADSL-related disorder
RS774436034 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS774436229 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS774436727 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS774437098 PLCB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS774437805 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS774439137 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS774439464 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS774439908 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS774440277 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774440323 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS774440370 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS774440496 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS774440500 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS774441486 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774441811 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS774442159 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS774444542 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS774445829 ARV1 Health Risk Likely pathogenic —
RS774446358 KCNV2 Health Risk Pathogenic —
RS774446640 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774447299 KARS1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Leukoencephalopathy
RS774447369 NPRL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS774448248 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS774448433 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS774448845 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS774448881 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS774448942 TNFRSF6B Health Risk Conflicting classifications of pathogenicity —
RS774449341 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS774449661 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS774450833 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS774452090 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS774452184 OTOF Health Risk Conflicting classifications of pathogenicity —
RS774452914 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS774452933 MSH6 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS774453006 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS774453167 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS774454074 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS774454456 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Primary hyperparathyroidism
RS774455553 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS774455587 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS774455945 KCNN4 Health Risk Pathogenic Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases
RS774456004 PIAS1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS774456344 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder
RS774457503 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS774457925 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS774458113 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS774459476 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, LMX1B-related disorder
RS774460527 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS774461392 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS774461588 KCNJ2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Andersen Tawil syndrome
RS774461787 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS774462243 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS774462373 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS774462906 PITPNM3 Health Risk Conflicting classifications of pathogenicity —
RS774463519 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774463808 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS774464019 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS774464035 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS774464311 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS774464372 CCDC8 Health Risk Conflicting classifications of pathogenicity 3M syndrome 3, 3M syndrome 3
RS774464702 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS774465102 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS774466323 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, recessive ARS-related multisystem disease
RS774466512 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS774467219 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS774471352 ROR2 Health Risk Pathogenic —
RS774471485 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS774471575 COL4A4 Health Risk Likely pathogenic Kidney disorder, Autosomal recessive Alport syndrome
RS774471595 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS774472182 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS774472247 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS774472719 STAMBP Health Risk Likely pathogenic —
RS774472777 POC1B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS774473277 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS774473819 KPTN Health Risk Conflicting classifications of pathogenicity —
RS774474422 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS774474723 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS774475723 MKS1 Health Risk Likely pathogenic Meckel syndrome, type 1
RS774475956 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS774476280 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS774476595 PKD1 Health Risk Likely pathogenic —
RS774476953 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS77447750 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Hypertrophic cardiomyopathy
RS774478146 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS774478846 ORC3 Health Risk Likely pathogenic ORC3-related disorder, ORC3-related disorder
RS774479750 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774479966 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS774480008 TENT5A Health Risk Conflicting classifications of pathogenicity —
RS774482510 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS774483323 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS774484160 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774484322 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS774484397 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS774485087 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS774485513 CEP63 Health Risk Pathogenic —
RS774486522 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS774488954 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens
RS774489872 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS774490005 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
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