SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS908355642 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS908409288 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS908430857 ASPM Health Risk Conflicting classifications of pathogenicity —
RS908445283 TTBK2 Health Risk Conflicting classifications of pathogenicity —
RS908461148 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Inborn genetic diseases
RS908502131 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS908532580 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS908545297 MCCC1 Health Risk Conflicting classifications of pathogenicity Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS908611545 LMF1 Health Risk Likely pathogenic —
RS908638591 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS908640922 CD3E Health Risk Likely pathogenic Immunodeficiency 18, Immunodeficiency 18
RS908652572 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS908660542 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS908673218 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS908682527 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS908690172 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS908738769 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS908749525 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS908755268 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS908769563 PCNT Health Risk Pathogenic PCNT-related disorder, PCNT-related disorder
RS908790331 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS908792916 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS908806258 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS908815575 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS908820800 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS908833503 NBAS Health Risk Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS908851023 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS908880474 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS908881657 VARS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS908889815 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism
RS908965524 CTNS Health Risk Pathogenic Ocular cystinosis, Inborn genetic diseases
RS908976259 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS908978048 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS909012139 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS909035620 GRIN3B Health Risk Conflicting classifications of pathogenicity —
RS909040709 COL7A1 Health Risk Pathogenic —
RS909041164 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS909061146 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Blepharophimosis-impaired intellectual development syndrome
RS909072667 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS909098202 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS909105303 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS909124308 CEACAM16 Health Risk Conflicting classifications of pathogenicity —
RS909152061 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS909158021 SZT2 Health Risk Pathogenic —
RS909200339 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS909217502 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS909253 LTA Health Risk risk factor Psoriatic arthritis, susceptibility to
RS909264507 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS909274897 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS909281332 FGF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS909308611 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS909318705 DRC4 Health Risk Pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS909351177 SNAP29 Health Risk Conflicting classifications of pathogenicity CEDNIK syndrome, CEDNIK syndrome
RS909358635 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS909373397 POC1B Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS909374291 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS909387820 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS909410576 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS909425483 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS909426053 TPO Health Risk Likely pathogenic —
RS909428117 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS909435840 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS909488930 PIGO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 2
RS909532068 ALDH3A2 Health Risk Pathogenic —
RS909548615 GLMN Health Risk Pathogenic —
RS909564120 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS909572402 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS909573287 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS909578765 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS909588820 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS909612975 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS909634945 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS909671156 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, neonatal form
RS909725535 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS909730457 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS909772484 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS909777665 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS909786635 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS909796647 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS909821850 TMPRSS3 Health Risk Pathogenic —
RS909826115 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS909846146 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS909847521 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS909876976 TFE3 Health Risk Pathogenic —
RS909891224 MTHFD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS909905245 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS909905659 EGFR Health Risk Conflicting classifications of pathogenicity Cerebral arteriovenous malformation, Hereditary cancer-predisposing syndrome
RS909909437 CLPP Health Risk Pathogenic —
RS909942650 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS909968793 PCDH15 Health Risk Pathogenic —
RS909979938 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS909980690 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS909983958 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS910045310 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS910068556 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS910086490 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS910095001 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS910102517 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS910119961 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS910146888 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
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