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
RS750651204 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS750651809 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS750653037 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS750653834 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS750655311 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1KK
RS750655470 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS750655720 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS750656470 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS750658321 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS750658890 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS750659716 ACSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS750660824 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750661309 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750662250 LYST Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Chédiak-Higashi syndrome
RS750663070 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS750663117 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS750663981 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS750664040 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS750664148 MYC Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS750664256 PLOD2 Health Risk Pathogenic —
RS750664956 ASPM Health Risk Pathogenic —
RS750665609 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS750665866 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS750665937 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Congenital myopathy
RS750666025 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS750666346 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Inborn genetic diseases
RS750667529 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS750667928 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS750668627 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS750669148 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS750669368 RNASET2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS750669994 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS750670743 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750671399 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS750671777 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS750672211 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS750675692 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS750676893 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS750677189 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS75067824 DNAH7 Health Risk Conflicting classifications of pathogenicity DNAH7-related disorder, DNAH7-related disorder
RS750678272 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS750680286 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Neuropathy
RS75068032 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS750681131 FAM149B1 Health Risk Pathogenic Joubert syndrome 36, Clear cell carcinoma of kidney
RS750681891 ZNF142 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS750682546 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS750683352 ABCC2 Health Risk Pathogenic —
RS750684515 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS750685055 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS750685598 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome, HPS3-related disorder
RS750685646 B3GAT3 Health Risk Pathogenic/Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS750686083 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS750686148 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS750686734 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS750688292 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750689059 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS750689118 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS750690310 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750691939 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS750692650 WDFY3 Health Risk Pathogenic —
RS750693109 VPS13B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome
RS750693417 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750693623 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS750694928 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS750695074 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750695182 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS750695521 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS750696284 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS750696928 DRD4 Health Risk Likely pathogenic Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
RS750697040 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS750698432 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS750698494 LTBP4 Health Risk Likely pathogenic —
RS750699019 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS750699540 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750699545 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Benign familial hematuria
RS750699844 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS750700066 LAMC2 Health Risk Pathogenic —
RS750700691 C2CD3 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS750701057 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Childhood apraxia of speech
RS750703971 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS750704702 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS750705900 AP3B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750707504 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS750707642 TYMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750708103 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS750708201 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750710187 COQ2 Health Risk Pathogenic/Likely pathogenic Coenzyme Q10 deficiency, primary
RS750710267 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS75071027 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750710315 SLC12A3 Health Risk Pathogenic Bartter syndrome, Familial hypokalemia-hypomagnesemia
RS750712213 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome
RS750714387 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS750715942 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS750717767 TBCD Health Risk Pathogenic/Likely pathogenic —
RS750718366 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS750720912 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS750720946 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS750720985 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS750721065 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS750721291 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
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