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
RS182452385 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS182452430 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS1824533495 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS182454354 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1824556879 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1824564325 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1824564676 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1824580005 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1824590832 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS182459320 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS182464375 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS1824643950 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS182464550 GP9 Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard Soulier syndrome
RS182466831 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1824676022 TPM2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS182468717 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS182470608 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS1824723269 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS182482113 RSPO1 Health Risk Conflicting classifications of pathogenicity —
RS182484523 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS182487428 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS182491843 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1824931248 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1824935807 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS182495915 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS182506343 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS182506368 SLC39A4 Health Risk Likely pathogenic —
RS1825065987 CNGB3 Health Risk Likely pathogenic —
RS1825070895 TEK Health Risk Pathogenic —
RS1825073624 TEK Health Risk Pathogenic —
RS1825075709 VPS13A Health Risk Pathogenic —
RS1825084931 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1825102855 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1825112395 FOXH1 Health Risk Likely pathogenic Conotruncal defect, Conotruncal defect
RS1825112515 FOXH1 Health Risk Likely pathogenic Conotruncal defect, Conotruncal defect
RS182512508 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS182512524 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS182512638 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1825151618 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1825159081 KCNQ3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Seizures
RS1825184950 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1825188053 VPS13A Health Risk Pathogenic —
RS1825188115 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1825188183 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1825189052 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS182521570 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS182522590 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS182526202 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, GLIS2-related disorder
RS182527895 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Inborn genetic diseases
RS1825308382 CNGB3 Health Risk Pathogenic —
RS182531655 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS182531866 GNRHR Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS182533165 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS182535774 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, SPG11-related disorder
RS1825358020 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS182537028 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS182537898 MUTYH Health Risk Pathogenic Gastric cancer, Gastric cancer
RS182538665 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1825406258 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS182549 MCM6 Health Risk association LACTASE PERSISTENCE, LACTASE PERSISTENCE
RS182549226 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1825511679 TEK Health Risk Likely pathogenic Multiple cutaneous and mucosal venous malformations, Multiple cutaneous and mucosal venous malformations
RS1825528981 BBS9 Health Risk Pathogenic —
RS1825576567 VPS13A Health Risk Pathogenic —
RS182559752 TWNK Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS1825652623 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1825652774 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1825653076 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1825653450 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS1825682849 TEK Health Risk Pathogenic Bockenheimer syndrome, Abnormal cardiovascular system morphology
RS1825682922 TEK Health Risk Pathogenic/Likely pathogenic Abnormal cardiovascular system morphology, Vascular malformation
RS1825683100 TEK Health Risk Pathogenic/Likely pathogenic Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations
RS1825714345 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS182571462 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1825725461 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1825747036 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS182575709 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1825770738 FANCC Health Risk Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1825770865 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1825775052 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS182578138 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS182582633 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS182590005 TSPEAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 98, Autosomal recessive nonsyndromic hearing loss 98
RS1825930993 VPS13A Health Risk Pathogenic —
RS1825933906 CEP78 Health Risk Pathogenic —
RS182593453 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS182593735 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS182595609 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS182597438 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, UNC80-related disorder
RS182597890 DMD Health Risk Conflicting classifications of pathogenicity Dystrophin deficiency, Becker muscular dystrophy
RS182598111 CAD Health Risk Conflicting classifications of pathogenicity —
RS1825996355 CUX1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1826003461 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS1826007748 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS182600896 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS182601554 MYO1F Health Risk Conflicting classifications of pathogenicity MYO1F-related disorder, MYO1F-related disorder
RS182602020 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS182602615 MME Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Peripheral neuropathy
RS182602738 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS182602770 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
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