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
RS143128153 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, CUL7-related disorder
RS1431284689 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS143128547 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Transient Neonatal Diabetes
RS143129030 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS143129413 ZC3H14 Health Risk Conflicting classifications of pathogenicity —
RS143129484 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1431303701 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS143131185 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS143131258 PDHX Health Risk Pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS143131470 PRMT7 Health Risk Conflicting classifications of pathogenicity Short stature-brachydactyly-obesity-global developmental delay syndrome, PRMT7-related disorder
RS143132980 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS143133190 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1431337923 SLC18A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS143133981 SRCAP Health Risk Likely pathogenic Floating-Harbor syndrome, Floating-Harbor syndrome
RS143134864 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS143136329 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS143136523 RAC3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
RS143137111 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS143137713 GYG1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS1431381776 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS143138491 KCNV2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1431386295 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS143138715 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, MAPT-related disorder
RS143138885 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS143139258 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10
RS143139259 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1431405050 HPS3 Health Risk Pathogenic —
RS1431407722 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1431407809 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1431410587 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS143141689 ORC1 Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome
RS143141993 OTOF Health Risk Conflicting classifications of pathogenicity OTOF-related disorder, OTOF-related disorder
RS143142227 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS1431425358 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS143142641 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1431427428 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1431438300 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143144732 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS143144795 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS143145248 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1431456617 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS143145868 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS143146120 VPS13D Health Risk Conflicting classifications of pathogenicity VPS13D-related disorder, Inborn genetic diseases
RS143146734 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS143148642 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS143149360 CDT1 Health Risk Conflicting classifications of pathogenicity CDT1-related disorder, Inborn genetic diseases
RS143149579 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS143149582 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS143149764 B9D1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 9
RS143150244 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS143150260 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS143150497 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS1431507005 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1431507497 NDUFV2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1431512432 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS143151340 QRSL1 Health Risk Conflicting classifications of pathogenicity —
RS143152014 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS143152201 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS143152287 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Meckel syndrome
RS1431523432 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS1431526147 TP53RK Health Risk Pathogenic Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS143152775 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS143152888 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS1431530916 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS143153487 CSTB Health Risk Conflicting classifications of pathogenicity Unverricht-Lundborg syndrome, Progressive myoclonic epilepsy
RS143153871 XRCC2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group U, Hereditary cancer-predisposing syndrome
RS143154211 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS143154982 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS143155251 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143155406 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS1431556127 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, 6 conditions
RS143155918 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Inborn genetic diseases
RS143156114 WWP2 Health Risk Conflicting classifications of pathogenicity —
RS143156315 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases
RS143156459 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS1431566505 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS143156660 KIF14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1431572320 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS143158055 INTU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1431580668 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1431589133 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS143159110 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS143159780 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Inborn genetic diseases
RS143160246 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS143160357 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1431604157 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS143160499 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS143160789 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS143160805 USH1C Health Risk Conflicting classifications of pathogenicity —
RS143161827 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS143161842 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS143162500 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Inborn genetic diseases
RS143163262 FLT4 Health Risk Conflicting classifications of pathogenicity FLT4-related disorder, Inborn genetic diseases
RS143163327 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1431633756 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS143163385 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS1431637197 ZMPSTE24 Health Risk Pathogenic —
RS143163969 NPHP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome with renal defect, Senior-Loken syndrome 1
RS143164660 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, TRPM6-related disorder
RS143165174 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome
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