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
RS1390897355 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS139089832 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139091458 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS139091551 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, KIF5A-related disorder
RS1390917339 CYP21A2 Health Risk Pathogenic —
RS139091750 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1390926046 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS139092703 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS139093330 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS139093792 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS139093920 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS139095108 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS139095230 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS139095432 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1390956301 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1390963789 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1390966485 OTOF Health Risk Pathogenic —
RS1390970926 FMN2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 47
RS139097585 S1PR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139098225 OTOF Health Risk Conflicting classifications of pathogenicity —
RS139098335 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1390985798 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS139099983 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139100972 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9
RS1391010387 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS139101294 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS139102330 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Inborn genetic diseases
RS1391025848 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1391029692 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS139102992 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS139103399 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS1391036863 IFT74 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 40, IFT74-related disorder
RS139103850 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS139104022 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS139104492 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1A
RS139105066 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS139105272 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS139105452 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS1391059122 KCNQ4 Health Risk Pathogenic —
RS139106189 PSPH Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Glioma susceptibility 1
RS139106261 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS139106371 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS139106381 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS139106405 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139107479 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS139107757 CRYBB1 Health Risk Conflicting classifications of pathogenicity Cataract 17 multiple types, Cataract 17 multiple types
RS1391084505 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1391089933 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS139109485 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS139110184 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1391102782 SPEF2 Health Risk Pathogenic Spermatogenic failure 43, Spermatogenic failure 43
RS1391105203 SZT2 Health Risk Pathogenic —
RS139110744 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS139111416 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS139112542 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS139113046 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS139113273 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1391136601 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1391142709 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS139114389 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Connective tissue disorder
RS1391148381 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS139115275 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1391155490 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1391158579 OTUD6B Health Risk Conflicting classifications of pathogenicity OTUD6B-related disorder, Intellectual developmental disorder with dysmorphic facies
RS139116075 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS139116571 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS139116598 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1391167729 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1391169179 ABCA3 Health Risk Pathogenic —
RS139117131 ADAT3 Health Risk Conflicting classifications of pathogenicity ADAT3-related disorder, ADAT3-related disorder
RS1391173198 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS139117495 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS139117542 NPRL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1391177886 MMUT Health Risk Pathogenic —
RS1391179566 ERCC3 Health Risk Pathogenic —
RS1391180102 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1391182730 ZMIZ1 Health Risk Likely pathogenic —
RS1391182750 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS139118782 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS139119218 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Retinitis pigmentosa
RS139119358 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1391194715 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1391196036 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS1391198560 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS139121881 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS139122042 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS139122081 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS1391223943 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1391226025 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1391231312 CIT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS139123547 CEP41 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 15, Inborn genetic diseases
RS139124254 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS139124415 TWNK Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS1391247648 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS139124977 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS139125255 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1391253919 DAAM2 Health Risk Pathogenic Nephrotic syndrome, type 24
RS139125612 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS139127242 TRAF3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS1391287036 CCDC141 Health Risk Conflicting classifications of pathogenicity —
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