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
RS760906812 SCN1A Health Risk Pathogenic/Likely pathogenic Seizure, Severe myoclonic epilepsy in infancy
RS760907119 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS760907496 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS760908622 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Inborn genetic diseases
RS760908627 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS760909376 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, P3H1-related disorder
RS760910667 CUL7 Health Risk Pathogenic 3-M syndrome, 3-M syndrome
RS760911964 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS760912339 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS760913598 PYGL Health Risk Pathogenic —
RS760914568 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760915007 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS760915248 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS760915898 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS760916017 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS760916142 METTL5 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 72
RS760917372 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS760917490 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS760917668 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS760917811 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS760918561 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS760918600 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS760918699 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS760918829 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS760919068 PCYT1A Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
RS760919233 PDZD7 Health Risk Pathogenic —
RS760919336 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS760919459 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS76091978 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, RNASEH2C-related disorder
RS760919949 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS760920034 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS760920084 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS760920236 SHH Health Risk Pathogenic Schizencephaly, Schizencephaly
RS760920706 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS760921148 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS760922371 TCTN1 Health Risk Likely pathogenic Joubert syndrome 13, Clear cell carcinoma of kidney
RS760922529 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS760924186 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS760925109 INPPL1 Health Risk Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS76092524 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS760925535 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS760926837 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS760928285 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS760928741 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperaldosteronism
RS760929179 ABCG5 Health Risk Pathogenic —
RS760929207 OBSL1 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS760929484 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS760930050 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS760930408 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS760932600 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS760932744 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS760933323 METTL23 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 44
RS760933549 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS760933616 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS760935117 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS760935667 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS760936252 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS760936547 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS760936909 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS760938057 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS760938537 WFS1 Health Risk Likely risk allele Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS760939030 RORA Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS760942217 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy 15
RS760943092 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS760943185 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS760944130 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS760945786 COL7A1 Health Risk Pathogenic —
RS760946329 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Inborn genetic diseases
RS760947148 DHX38 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS760948323 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS760948342 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS760948624 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
RS760949880 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS760949956 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS760950550 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760950917 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS760952407 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS760956030 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2, Inborn genetic diseases
RS760957660 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS760957728 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS760957859 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS760960194 ARHGAP1 Health Risk Conflicting classifications of pathogenicity —
RS760960779 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
RS760963075 KCNK4 Health Risk Conflicting classifications of pathogenicity KCNK4-related disorder, KCNK4-related disorder
RS760963888 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS760964443 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS760964794 FOXRED1 Health Risk Pathogenic —
RS760965283 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS760965671 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS760966930 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760967074 TP63 Health Risk Likely pathogenic Limb-mammary syndrome, Limb-mammary syndrome
RS760967554 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS760968740 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS760969953 SRCAP Health Risk Conflicting classifications of pathogenicity SRCAP-related disorder, Inborn genetic diseases
RS760970824 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS760971556 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS760971749 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS760972720 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS760972725 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS760973100 WDR11 Health Risk Pathogenic/Likely pathogenic Microcephaly, Intellectual developmental disorder
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