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
RS181340304 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS181341030 AMACR Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, Congenital bile acid synthesis defect 4
RS181346624 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS1813480415 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS181348299 PRNP Health Risk Likely pathogenic Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease
RS181355572 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS181356497 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS1813585665 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1813589674 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1813590716 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS181362419 PTPRQ Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS181362801 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS181364853 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS181365280 GRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1813682416 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1813707238 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS181372484 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS1813725009 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1813725603 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS181375012 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1813759748 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS181378121 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1813783655 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1813838655 TMEM67 Health Risk Pathogenic Nephronophthisis 11, Nephronophthisis 11
RS181385165 TALDO1 Health Risk Conflicting classifications of pathogenicity Deficiency of transaldolase, TALDO1-related disorder
RS1813878286 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS181388674 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1813907455 ZFPM2 Health Risk Pathogenic/Likely pathogenic Diaphragmatic hernia 3, Diaphragmatic hernia 3
RS181395238 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS181396238 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS181397225 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1814007969 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1814012663 ZFPM2 Health Risk Pathogenic Diaphragmatic hernia 3, Diaphragmatic hernia 3
RS181402160 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1814047987 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS181407537 IFNG Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Aplastic anemia
RS181410446 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS181412206 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS181413143 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Thrombocytopenia
RS181413894 KIAA0586 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1814176579 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1814190165 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1814195192 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1814195897 VPS13B Health Risk Pathogenic —
RS1814197201 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1814197375 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS181420326 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 30, Retinitis pigmentosa 30
RS181422024 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS181428774 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1814292465 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS181429509 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS181430415 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, Recessive dystrophic epidermolysis bullosa
RS181435872 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1814359696 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1814423398 DPYS Health Risk Pathogenic —
RS181442771 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS181445947 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS181447706 MRTFA Health Risk Conflicting classifications of pathogenicity MRTFA-related disorder, MRTFA-related disorder
RS181450025 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1814523509 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181461079 DUOX2 Health Risk Pathogenic Nongoitrous Euthyroid Hyperthyrotropinemia, Thyroid dyshormonogenesis 6
RS181462219 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS181463817 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Infantile nephronophthisis
RS181466556 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1814667437 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome
RS1814677892 KCNK9 Health Risk Likely pathogenic Birk-Barel syndrome, Birk-Barel syndrome
RS1814685980 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1814690517 KCNK9 Health Risk Conflicting classifications of pathogenicity Birk-Barel syndrome, Birk-Barel syndrome
RS1814692109 TG Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS181469519 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS181472622 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS181476648 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS181479224 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, MPDZ-related disorder
RS181480774 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS181481207 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS181483148 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS181484327 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS181490574 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1814928114 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS181494077 MPO Health Risk Pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS181499296 TRPM1 Health Risk Conflicting classifications of pathogenicity TRPM1-related disorder, TRPM1-related disorder
RS181500247 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1815013208 FZD6 Health Risk Likely pathogenic Nonsyndromic congenital nail disorder 1, Nonsyndromic congenital nail disorder 1
RS181502604 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1815033569 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1815053872 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1815059174 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, COACH syndrome 1
RS1815067197 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1815070006 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS181507125 FOXJ3 Health Risk Conflicting classifications of pathogenicity —
RS181507134 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1815085488 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1815095431 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS181509591 SLC2A9 Health Risk Likely pathogenic Hypouricemia, renal
RS1815108719 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS181511327 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS181517869 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS181528936 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Autosomal recessive Alport syndrome
RS1815322920 WASHC5 Health Risk Likely pathogenic Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8
RS1815323043 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
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