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
RS200797733 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS200797763 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS200797921 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS200797928 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS200798080 TWNK Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia
RS200798153 RGS9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RGS9-related disorder
RS200798545 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Robinow syndrome 3
RS200798819 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS200798969 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS200798994 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200799740 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200799762 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS200799769 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS200799870 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS200800133 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS200800604 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200800978 NDUFB3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 25
RS200801090 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS200801099 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS200801272 COA8 Health Risk Conflicting classifications of pathogenicity —
RS200801825 DLL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS200801915 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS200801946 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS200802315 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS200802376 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200802591 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS200803122 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS200803157 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS200803276 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS200804428 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS200804798 ASPM Health Risk Conflicting classifications of pathogenicity —
RS200805087 CNGB3 Health Risk Pathogenic Abnormality of the eye, Achromatopsia 3
RS200805108 GRIK3 Health Risk Conflicting classifications of pathogenicity —
RS200805176 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS200805455 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200805760 TP53;WRAP53 Health Risk Conflicting classifications of pathogenicity —
RS200806163 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS200806228 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS200806292 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS200806519 PNPLA1 Health Risk Pathogenic/Likely pathogenic Ichthyosis, Autosomal recessive congenital ichthyosis
RS200806851 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS200807210 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS200807211 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS200807331 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS200807583 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200808105 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS200808363 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS200808744 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS200809116 OTOG Health Risk Conflicting classifications of pathogenicity —
RS200809157 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS200809221 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS200809259 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200809348 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS200809908 SLC10A1 Health Risk Conflicting classifications of pathogenicity SLC10A1-related disorder, Hypercholanemia
RS200810024 MCF2 Health Risk Conflicting classifications of pathogenicity —
RS200810080 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS200810218 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200810334 VCX3A Health Risk Conflicting classifications of pathogenicity —
RS200810494 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS200810800 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS200810866 ITGA3 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 7
RS200811483 TRIM63 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS200811582 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS200811721 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS200811852 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, CANT1-related disorder
RS200812140 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS200812185 SETD1A Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS200812468 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS200812621 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Inborn genetic diseases
RS200812708 COG6 Health Risk Likely pathogenic Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, COG6-congenital disorder of glycosylation
RS200812806 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200813801 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS200813877 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS200813987 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200813995 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200814061 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS200814155 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200814465 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS200814534 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS200814676 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS200814886 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS200815093 CLCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200815261 STARD8 Health Risk Conflicting classifications of pathogenicity —
RS200815296 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS200815347 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS200815406 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS200815412 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS200815994 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases
RS200816061 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS200816323 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS200816462 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS200816814 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS200816999 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS200817090 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS200817545 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS200817926 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS200818051 PRKG1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS200818171 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS200818286 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS200818558 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
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