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
RS1006690042 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1006697477 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS1006702602 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1006737 CACNA1C Health Risk Uncertain risk allele Post-traumatic stress disorder, Post-traumatic stress disorder
RS1006770 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1006806353 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1006806821 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1006839535 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1006843385 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Retinal dystrophy
RS1006852881 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1006857833 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1006898944 WDR62 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Microcephaly 2
RS1006906224 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1006907254 BCS1L Health Risk Likely pathogenic GRACILE syndrome, GRACILE syndrome
RS1006914549 RARS2 Health Risk Likely pathogenic —
RS1006935198 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1006965532 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1006994885 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1007001451 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1007046371 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1007047958 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1007052146 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1007096305 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS1007109925 BSND Health Risk Likely pathogenic Bartter syndrome, Bartter disease type 4A
RS1007125449 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1007145713 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS1007149732 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1007158603 ETV6 Health Risk Conflicting classifications of pathogenicity EBV-positive nodal T- and NK-cell lymphoma, Inborn genetic diseases
RS1007159317 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS1007276082 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1007286459 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1007294927 DYNC2H1 Health Risk Pathogenic/Likely pathogenic DYNC2H1-related disorder, Jeune thoracic dystrophy
RS1007311950 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1007335343 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1007336407 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1007338250 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1007345781 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS1007363034 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1007367534 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1007394906 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1007398058 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1007434751 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1007463257 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1007481549 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1007498516 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1007521035 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Cholestasis
RS1007521320 ATP8B1 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1
RS1007522348 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1007524117 PSMB8 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS1007534611 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1007562396 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS10077543 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1007777038 OGT Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 106
RS1007809575 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS1007812513 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS1007831681 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1007848349 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome and related disorders
RS1007865427 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1007871645 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1007902545 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1007915253 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1007918379 MYH2 Health Risk Pathogenic —
RS1007933061 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1007936574 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1007978252 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases
RS1007979214 SYNGAP1 Health Risk Likely pathogenic —
RS1008000319 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1008021925 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1008033481 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1008040869 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1008064947 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1008080053 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS1008083351 ATPAF2 Health Risk Conflicting classifications of pathogenicity —
RS1008088032 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS1008093328 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1008123818 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1008150951 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1008167271 SNX14 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS1008210645 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1008211605 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1008225259 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1008232313 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1008236555 ELN Health Risk Likely pathogenic —
RS1008238083 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1008240677 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1008275504 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1008290173 PYCR2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1008303488 CASK Health Risk Pathogenic —
RS1008314756 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS1008328462 SOX4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1008335405 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1008358256 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1008384764 SHH Health Risk Conflicting classifications of pathogenicity —
RS1008392420 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1008407158 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1008414642 GBA2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1008438 HSPA1A Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS1008479744 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1008514114 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1008518818 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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