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
RS201803579 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS201803784 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary breast ovarian cancer syndrome
RS201803908 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS201803921 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS201803986 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Ovarian serous cystadenocarcinoma
RS201804005 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS201804130 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS201804449 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS201804540 AP3D1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 10, Hermansky-Pudlak syndrome 10
RS201804890 ADCY10 Health Risk Conflicting classifications of pathogenicity —
RS201804963 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS201804994 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201805132 RPS24 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, RPS24-related disorder
RS201805333 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS201805434 MCFD2;TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS201805600 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS2018057322 NFIX Health Risk Likely pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS201805773 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS2018058219 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS201806038 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS201806170 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Age related macular degeneration 14
RS201806277 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS201806531 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201806644 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201806708 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS201806801 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS201806839 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS201807364 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS201807738 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS201808265 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201808443 DUOXA2 Health Risk Conflicting classifications of pathogenicity Congenital hypothyroidism, DUOXA2-related disorder
RS201808774 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa
RS201809134 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS201809337 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS201809454 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS2018100989 CSNK2A1 Health Risk Pathogenic/Likely pathogenic CSNK2A1-related neurodevelopmental syndrome, CSNK2A1-related neurodevelopmental syndrome
RS201810356 CD3D Health Risk Conflicting classifications of pathogenicity Immunodeficiency 19, Immunodeficiency 19
RS201810406 PCDH19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201810511 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS201810535 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201810836 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201810925 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 4, Autosomal dominant osteopetrosis 2
RS201811165 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS201811428 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201811817 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS201811831 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201811844 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, 6 conditions
RS201811994 NACC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with epilepsy, cataracts
RS201812205 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS201812410 SLC6A9 Health Risk Conflicting classifications of pathogenicity Atypical glycine encephalopathy, Inborn genetic diseases
RS2018124491 CSNK2A1 Health Risk Pathogenic/Likely pathogenic Okur-Chung neurodevelopmental syndrome, Inborn genetic diseases
RS201812544 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS2018126017 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2018126184 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS201812821 COL4A1 Health Risk Conflicting classifications of pathogenicity Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies
RS201813515 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, TPM1-related disorder
RS201813523 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS201814013 FLNB Health Risk Conflicting classifications of pathogenicity —
RS201814139 PLAA Health Risk Conflicting classifications of pathogenicity PLAA-related disorder, Thymoma
RS201814961 PRDM16 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Left ventricular noncompaction 8
RS201815449 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS201815496 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS201815571 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS201815805 TRPV4 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS201816069 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS201816080 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS201816354 CAMTA1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS201816501 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201816520 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS201816539 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS201816596 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201816834 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS201816949 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS201817670 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Stickler syndrome type 1
RS2018178212 CSNK2A1 Health Risk Likely pathogenic —
RS201817953 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Uterine corpus endometrial carcinoma
RS201817995 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS201818140 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS201818223 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS201818235 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS201818335 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS201818373 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201818691 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201818722 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201819574 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS201819880 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201819948 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS201820144 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS201820243 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS201820395 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS201820442 VPS13D Health Risk Pathogenic —
RS201820569 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS201820733 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201820739 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS201821203 HERC2 Health Risk Conflicting classifications of pathogenicity —
RS201821906 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS201822024 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS201822027 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS201822097 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS201822162 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
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