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
RS781518706 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781519491 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS781520783 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS781520837 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781522558 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS781524409 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS781524740 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
RS781525096 TIMMDC1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 31
RS781525831 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS781526618 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS781526810 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS781527567 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS781527733 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS781528244 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS781528301 ASCC1 Health Risk Pathogenic —
RS781529108 TGFBR2 Health Risk Conflicting classifications of pathogenicity Diabetic retinopathy, Diabetic retinopathy
RS781529313 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS781529538 NPAT Health Risk Conflicting classifications of pathogenicity —
RS781531824 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS781531865 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS781532110 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS781533251 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS781533796 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781534097 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS781534323 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS781534913 SKIC2 Health Risk Likely pathogenic —
RS781535021 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS781535659 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS781536408 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS781537575 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS781539069 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS781539921 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS781540048 HTRA2 Health Risk Conflicting classifications of pathogenicity Parkinson disease 13, autosomal dominant
RS781540455 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS781541857 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS781542763 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS78154277 JAG2 Health Risk Conflicting classifications of pathogenicity JAG2-related disorder, Orofacial cleft 1
RS781544014 SKIC2 Health Risk Conflicting classifications of pathogenicity —
RS781544862 DLL1 Health Risk Conflicting classifications of pathogenicity DLL1-related disorder, DLL1-related disorder
RS781545154 ABCC2 Health Risk Likely pathogenic —
RS781545528 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS781545960 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS781546107 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing loss
RS781547572 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS781548895 COQ8A Health Risk Pathogenic —
RS781549967 HARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 2, Perrault syndrome 2
RS781551128 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 2A
RS781551140 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS781551534 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS781552217 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS781552524 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS781552736 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS781554389 COL2A1 Health Risk Conflicting classifications of pathogenicity 16 conditions, COL2A1-related disorder
RS781555217 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS781556055 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS781556684 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS781558715 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS781559418 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS781560218 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781560435 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS781561221 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS781561828 NLRP3 Health Risk Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
RS781562337 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS781562698 DAP3 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 1, Perrault syndrome 7
RS781563259 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS781563777 HTRA1 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS781565158 PYROXD1 Health Risk Pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS781565844 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781566109 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS781566652 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS781567020 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS781567152 CBS Health Risk Pathogenic Classic homocystinuria, Homocystinuria
RS781568341 CFHR5 Health Risk Conflicting classifications of pathogenicity —
RS781569040 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS781569442 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS781570190 PEPD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781570454 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS781570584 GLRA1 Health Risk Pathogenic/Likely pathogenic Hereditary hyperekplexia, Hyperekplexia 1
RS781570593 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS781572378 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS781572557 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS781572688 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS781572815 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS781572938 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS781572949 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS781573002 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS781573292 MAP3K14 Health Risk Conflicting classifications of pathogenicity NIK deficiency, NIK deficiency
RS781573469 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS781574524 CYP19A1 Health Risk Pathogenic —
RS781574808 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS781575129 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS781575717 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS781575903 PAX8 Health Risk Likely pathogenic —
RS781575919 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS781577050 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS781577192 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS781578248 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS781578507 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781580050 AGL Health Risk Pathogenic Glycogen storage disease type III, AGL-related disorder
RS781580213 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
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