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
RS566918264 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS566923305 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS566928243 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS566929141 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS566942219 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS566953005 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS566953264 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS566961630 FOXP2 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Childhood apraxia of speech
RS566962779 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases
RS566966690 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS566968975 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2 syndrome, Inborn genetic diseases
RS566969453 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS566972043 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Dilated cardiomyopathy 1JJ
RS566973741 COASY Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 6, Pontocerebellar hypoplasia
RS566978194 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS566982836 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 2, Cardiovascular phenotype
RS566989836 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS566993466 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome 3b
RS56699480 LMNA Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS567000546 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS567005448 OTOF Health Risk Conflicting classifications of pathogenicity —
RS567009904 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS567013242 MYH8 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS567016348 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS567017513 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS567018549 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567021227 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS567023433 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS567026924 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS567030498 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS567038987 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS567058170 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6
RS567060474 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS567070908 UNC93B1 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS56707768 KRT9 Health Risk Pathogenic Epidermolytic palmoplantar keratoderma, 1
RS567080879 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS567084532 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS567084895 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SALL1-related disorder
RS567086019 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder
RS567089878 TNNI3K Health Risk Pathogenic TNNI3K-related disorder, TNNI3K-related disorder
RS567092790 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS567102013 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS567106287 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS567106336 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 88
RS567124920 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy
RS567130034 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS567130416 HPDL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS567136805 GNAO1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS567146793 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS567155861 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Inborn genetic diseases
RS567165324 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B
RS567167527 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS567173388 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS56717389 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS567175477 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS567183966 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS567192344 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567194577 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS567200323 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS567202367 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS567205447 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567206091 COL11A2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS567215034 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS567218474 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS567222111 ABCA7 Health Risk Conflicting classifications of pathogenicity Neuromuscular disease, Neuromuscular disease
RS567226063 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS567230691 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases
RS567236851 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS567241943 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS567245963 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS567247522 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS567256305 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS567261857 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS567269429 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS567279673 BRD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567282220 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS567284754 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567287489 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS567288669 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS56729325 KRT5 Health Risk Pathogenic/Likely pathogenic KRT5-related disorder, Epidermolysis bullosa
RS567304524 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS567305960 FAT4 Health Risk Pathogenic/Likely pathogenic Van Maldergem syndrome, Van Maldergem syndrome
RS567306113 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Retinal dystrophy
RS567309902 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS567310076 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS567315820 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS567318021 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS567323716 PLD1 Health Risk Conflicting classifications of pathogenicity Cardiac valvular defect, developmental
RS567323882 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS567325482 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS567335712 AKR1D1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS567336764 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS567340474 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS567344545 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS567346433 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS567349676 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS567349821 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS567356266 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS567359532 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS567364021 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
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