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
RS562367786 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS562368641 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS56236932 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS562370358 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS562372731 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS562379429 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS562381623 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS562384157 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS562392113 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS56239539 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Inborn genetic diseases
RS562406813 STIM1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency
RS562414207 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS562414897 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS562418648 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS562424836 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS56242644 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS562434504 ROM1 Health Risk Conflicting classifications of pathogenicity —
RS56244266 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS562443546 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS562444438 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS562445932 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS562447196 ADAT3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-strabismus syndrome, Inborn genetic diseases
RS56245238 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS56245285 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS56245590 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS562460577 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS562467758 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS562469691 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS562472225 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS562477272 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS562479062 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS562479351 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS562480894 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS56248239 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS562484051 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS562484375 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS56248469 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases
RS56248502 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS562485309 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS562486328 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS562487553 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS56249179 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Melanoma
RS562496423 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS562502844 TNR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder
RS562503544 ASL Health Risk Likely pathogenic —
RS562503637 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS562504992 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS56250509 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS562507867 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS562508529 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS562517792 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS562518878 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS562519835 ATP13A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kufor-Rakeb syndrome
RS562525508 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS562527410 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS56252746 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder
RS56252953 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS562530775 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS56253082 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS562535449 LIPT2 Health Risk Conflicting classifications of pathogenicity —
RS56253573 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS562544252 AFG3L2 Health Risk Conflicting classifications of pathogenicity —
RS562551309 CDC42BPB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS562553169 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS56256497 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS562567295 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
RS562568416 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, CBL-related disorder
RS562568796 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS56257041 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS562574661 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS562578394 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS562580805 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS562588574 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS562590210 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS56259600 ERBB3 Health Risk Conflicting classifications of pathogenicity Erythroleukemia, familial
RS562604064 MYOC Health Risk Pathogenic —
RS56261037 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS562612275 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS562616873 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome
RS562624441 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS56262445 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS562635122 CPSF1 Health Risk Conflicting classifications of pathogenicity —
RS56264519 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Rare genetic deafness
RS56264840 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS56265649 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS562658562 TTN Health Risk Conflicting classifications of pathogenicity —
RS56266857 FGFR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS562669797 DNAJB2 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS562670189 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS562680077 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS562680371 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS562683007 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Nephronophthisis 18
RS56268439 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS562686924 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS562689036 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Hereditary motor and sensory neuropathy
RS562695274 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS562698757 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS562700595 TMEM43 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS562702157 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS56270417 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
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