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
RS1403732379 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS140373332 NBAS Health Risk Conflicting classifications of pathogenicity —
RS1403735168 ORC4 Health Risk Likely pathogenic —
RS140373763 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS140375476 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS140375571 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, FASN-related disorder
RS140375681 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiomyopathy
RS140375946 CENPF Health Risk Conflicting classifications of pathogenicity CENPF-related disorder, Inborn genetic diseases
RS140376273 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS140376902 SIGMAR1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS1403770430 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1403772538 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS140377449 DCPS Health Risk Conflicting classifications of pathogenicity —
RS1403777293 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS140377811 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140377995 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS140378034 WWC3 Health Risk Conflicting classifications of pathogenicity —
RS1403781576 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS140378165 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140378202 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS1403784434 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS140378669 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS1403787492 SKIC3 Health Risk Likely pathogenic —
RS140379296 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANO6-related disorder
RS1403798841 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1403804729 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS140381335 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS140381459 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, RAB33B-related disorder
RS140381835 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS1403823146 CSF1R Health Risk Likely pathogenic Leukoencephalopathy, diffuse hereditary
RS140382420 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS140382474 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1403825722 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS1403828540 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS140383237 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1403832675 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1403833564 PIK3R1 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Agammaglobulinemia 7
RS140383655 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS140383991 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140384742 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis
RS140384933 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1403852124 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS140385286 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1403856375 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Thrombophilia due to activated protein C resistance
RS1403859556 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1403863523 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1403865104 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS140386513 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS1403868262 ASPM Health Risk Pathogenic/Likely pathogenic —
RS1403870448 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder due to PEX1 defect, Heimler syndrome 1
RS140387177 REPS1 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 7, Neurodegeneration with brain iron accumulation 7
RS1403873034 EXT2 Health Risk Pathogenic Exostoses, multiple
RS140387595 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS140387675 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS140388140 SMARCA1 Health Risk Conflicting classifications of pathogenicity —
RS1403882425 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS140388347 TMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1403885809 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS140388814 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS140389200 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS1403893283 NSUN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 5
RS140389725 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1403917706 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1403920456 LOXHD1 Health Risk Pathogenic —
RS1403924382 CNNM4 Health Risk Pathogenic —
RS140393165 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS140393508 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1403940898 ELP2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 58
RS1403946332 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1403952161 KCNJ1 Health Risk Pathogenic —
RS1403954498 PSMA3 Health Risk Conflicting classifications of pathogenicity —
RS140396599 FBN1 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection
RS140396626 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Inborn genetic diseases
RS140398130 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS140398533 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS140400648 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS140401218 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS1404014734 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1404018896 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS1404019220 TP63 Health Risk Likely pathogenic Ectrodactyly, ectodermal dysplasia
RS1404020990 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS140402727 NANS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140403507 COL7A1 Health Risk Conflicting classifications of pathogenicity Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS140403642 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Limb-girdle muscular dystrophy
RS140403660 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS140403872 DSP Health Risk Conflicting classifications of pathogenicity 6 conditions, Primary dilated cardiomyopathy
RS1404043155 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS140404523 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS140404854 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS140404896 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS140405116 BCS1L Health Risk Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS140405180 AAAS Health Risk Conflicting classifications of pathogenicity AAAS-related disorder, Inborn genetic diseases
RS140405555 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS140406003 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS140406512 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, FASLG-related disorder
RS1404070020 SEMA3A Health Risk risk factor Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia
RS140407587 ACOX2 Health Risk Conflicting classifications of pathogenicity —
RS140407614 ATP8B1 Health Risk Pathogenic ATP8B1-related disorder, ATP8B1-related disorder
RS1404076207 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS1404077542 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
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