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
RS747196387 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS747196571 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS747197324 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS747197522 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS747198089 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS747198298 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS747198710 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, 6 conditions
RS747199032 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS747201171 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS747202772 TTN Health Risk Conflicting classifications of pathogenicity —
RS747203627 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS747203787 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747204355 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS747204624 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS747205016 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS747205109 MYF6 Health Risk Likely pathogenic —
RS747205797 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747208140 VAPB Health Risk Conflicting classifications of pathogenicity Adult-onset proximal spinal muscular atrophy, autosomal dominant
RS747208674 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS747209331 COL7A1 Health Risk Pathogenic —
RS74720958 EYA1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 1, Melnick-Fraser syndrome
RS747210644 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS747213800 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS747214029 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS747214324 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS747214372 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS747214463 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS747214535 OCA2 Health Risk Likely pathogenic Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS747214551 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS747214620 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS747215273 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS747216258 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS747217399 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS747217677 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS747219934 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS747220413 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS747222233 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS747222651 TCF12 Health Risk Pathogenic/Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS747223076 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747223436 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Congestive heart failure
RS747223735 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS747224013 MAGEB2 Health Risk Conflicting classifications of pathogenicity —
RS747224934 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747225246 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS747225625 MCM3AP Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, autosomal recessive
RS747226226 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747227352 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS747228052 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS747228795 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS747229048 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter syndrome
RS747229863 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS747229909 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS747229979 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, PLCE1-related disorder
RS747231282 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS747231434 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootic syndrome 1
RS747231463 GLE1 Health Risk Pathogenic —
RS747231741 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS747233125 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Combined immunodeficiency due to DOCK8 deficiency
RS747233148 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747234596 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS747234651 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS747236787 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747237113 TSC2 Health Risk Conflicting classifications of pathogenicity Cortical tubers, Tuberous sclerosis 2
RS747238010 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS747238231 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS747239076 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS747239148 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS747239403 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS747240394 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747240928 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS747241884 NF1 Health Risk Pathogenic —
RS747242422 GIPC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS747243608 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747244348 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS747244814 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS747246700 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS747247583 TTN Health Risk Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747247646 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS747247743 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS747247971 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS747248100 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS747248488 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS747249619 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS747249702 NDUFS1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS747249958 AFG2B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, SPATA5L1-related disorder
RS747249998 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS747250117 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy
RS747251435 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS747252798 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS747252861 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS747253294 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS747255117 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS747256043 YRDC Health Risk Pathogenic Galloway-Mowat syndrome 10, Galloway-Mowat syndrome 10
RS747256476 KMT2C Health Risk Pathogenic KMT2C-related NDD, KMT2C-related NDD
RS747256664 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS747256929 RAB11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747257110 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder
RS747257199 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS747257567 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS747257894 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, Leukodystrophy
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