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
RS771641368 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS771643059 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS771644818 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS771645362 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS771645621 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS771645717 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS771646684 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771647137 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS771650739 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Inborn genetic diseases
RS771650894 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS771651520 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS771652807 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS771654029 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS771654032 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS771654748 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS771654971 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS771655808 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS771656368 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS77165728 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS771657338 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS771657438 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771659260 TTN Health Risk Conflicting classifications of pathogenicity —
RS771660227 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS771660778 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS771660985 COL9A2 Health Risk Conflicting classifications of pathogenicity —
RS771661583 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS771661933 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS771662129 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS771662961 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
RS771663107 DNAH5 Health Risk Pathogenic Kartagener syndrome, Primary ciliary dyskinesia 3
RS771663815 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
RS771665040 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771666952 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS771667607 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS771667749 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS771667880 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS771668748 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS771668786 CLPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771669017 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS771671892 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS771672174 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS771672410 TTN Health Risk Pathogenic —
RS771672596 PTPN11 Health Risk Likely pathogenic Metachondromatosis, Metachondromatosis
RS771673343 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS771674303 KCNH2 Health Risk Likely pathogenic —
RS771674559 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS771675702 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS771676134 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy
RS771676248 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS771676521 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS771677426 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS771678168 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS771678721 NOTCH3 Health Risk Conflicting classifications of pathogenicity NOTCH3-related disorder, Inborn genetic diseases
RS771679639 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS771680156 FGFR1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Hypogonadotropic hypogonadism 2 with or without anosmia
RS771681297 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS771681406 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Nephrotic syndrome
RS771682941 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS771683676 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Macular dystrophy with or without extraocular features
RS771684169 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS771685059 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS771685251 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS771685439 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS771686909 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS771687855 FAM161A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS771687911 MTHFD1;ZBTB25 Health Risk Conflicting classifications of pathogenicity —
RS771690392 FDX2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS771690686 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS771691157 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS771691280 PIGT Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS771692503 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS771693410 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS771694969 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771695599 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS771696726 TRIOBP Health Risk Pathogenic Hearing loss, autosomal recessive
RS771697321 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS771700269 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 74
RS771700832 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771701091 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771701344 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS771702107 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Familial aortopathy
RS771702139 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS771702541 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS771702699 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS771702963 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS771703326 EP400 Health Risk Conflicting classifications of pathogenicity —
RS771703517 FAM161A Health Risk Pathogenic —
RS771703569 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS771704089 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS771704204 TOE1 Health Risk Pathogenic —
RS771704621 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771705870 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS77170608 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS771706267 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS771706364 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771707256 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS771707809 GLE1 Health Risk Likely pathogenic —
RS771708843 PRDM5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS771708961 ITGA6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771709345 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity —
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