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
RS144292455 TACR3 Health Risk Pathogenic Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder
RS144292707 COL9A3 Health Risk Conflicting classifications of pathogenicity Uterine carcinosarcoma, Clear cell carcinoma of kidney
RS144293078 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder
RS1442949382 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS144295295 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS144295336 CSGALNACT1 Health Risk Conflicting classifications of pathogenicity Skeletal dysplasia, mild
RS144295934 CRYGC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nuclear pulverulent cataract
RS1442964152 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS144296512 JPH3 Health Risk Conflicting classifications of pathogenicity Huntington disease-like 2, JPH3-related disorder
RS144296663 DNAJB13 Health Risk Conflicting classifications of pathogenicity —
RS144298015 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1442986615 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Noonan syndrome 8
RS144299704 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1443000762 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1443006605 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS144301874 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS144302042 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1443021146 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1443023108 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1443025275 POLE Health Risk Pathogenic —
RS1443030830 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144303334 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS144303545 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1443039086 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS144303961 P3H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144305922 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Dejerine-Sottas disease
RS144306414 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, SLC34A1-related disorder
RS1443064804 EVC Health Risk Pathogenic EVC-related disorder, Curry-Hall syndrome
RS1443083095 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS144308691 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1443093432 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1443098123 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Diffuse pediatric-type high-grade glioma
RS1443102794 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS144310284 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1443104983 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1443107232 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS144310835 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related retinopathy, ABCA4-related disorder
RS144311212 ERBB4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 19, ERBB4-related disorder
RS1443122959 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS144312303 PIK3R1 Health Risk Conflicting classifications of pathogenicity SHORT syndrome, Immunodeficiency 36 with lymphoproliferation
RS1443125036 ITGAV Health Risk Pathogenic IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS
RS144312575 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS1443126481 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1443129647 CNGA3 Health Risk Pathogenic —
RS144312976 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS144313291 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Joubert syndrome 7
RS144313303 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
RS1443137430 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS144313838 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RECQL-related disorder
RS144314195 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS144314232 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Warfarin sensitivity
RS144314743 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS144314831 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS1443151475 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS144317206 RHO Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Congenital stationary night blindness autosomal dominant 1
RS144317897 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1443184602 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1443187318 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS1443213281 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS144321381 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS144321760 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Intellectual disability
RS144321868 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type III, Inborn genetic diseases
RS1443221868 METTL23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144322413 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS144322424 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1443225407 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS144322561 SLC6A1 Health Risk Likely pathogenic —
RS144323077 PTCH1 Health Risk Pathogenic Holoprosencephaly 7, Gorlin syndrome
RS1443232033 SKIC3 Health Risk Pathogenic —
RS1443234544 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1443235781 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144323646 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS144323773 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS144323841 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS144324520 GRM7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144325450 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS144325590 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiomyopathy
RS144325643 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen
RS1443260520 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS144326379 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS144327370 KDM4B Health Risk Conflicting classifications of pathogenicity KDM4B-related disorder, Inborn genetic diseases
RS1443276126 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS1443276640 ITPR1 Health Risk Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS144328631 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS144329079 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, MYH6-related disorder
RS144329336 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS144329595 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS144330952 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS1443314697 EIF2B4 Health Risk Pathogenic —
RS144331955 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS144332222 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS144332316 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS144332569 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS144332775 EIF2AK4 Health Risk Conflicting classifications of pathogenicity Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1443328607 ATP8B1 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 1
RS144332908 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS1443329727 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1443332884 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS144334183 SLC1A1 Health Risk Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria, Dicarboxylic aminoaciduria
RS144334281 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
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