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
RS138852641 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS138852882 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1388531012 ATP8B1 Health Risk Likely pathogenic —
RS138853172 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS138853909 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS1388546547 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS138855050 MAP1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138855106 EP300 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS138855109 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Ovarian cancer
RS138855128 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1388554818 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS138855624 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS138855718 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1388564782 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1388570121 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS138857091 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1388577237 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1388607733 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1388609508 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, NOTCH1-related disorder
RS138861038 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS138861317 KCNV2 Health Risk Conflicting classifications of pathogenicity —
RS138861831 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Childhood onset hearing loss
RS138862008 KDM3B Health Risk Conflicting classifications of pathogenicity KDM3B-related disorder, Inborn genetic diseases
RS1388629976 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS138863103 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS138864546 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS1388649142 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1388651064 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS138865542 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS138866017 USH2A Health Risk Conflicting classifications of pathogenicity —
RS138866018 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS1388664420 REEP6 Health Risk Pathogenic Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS1388667729 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138867099 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1388671241 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1388677499 LTBP2 Health Risk Pathogenic —
RS138867857 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS138867882 NDUFS3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 8
RS138868039 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS138868323 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, CEP164-related disorder
RS138868869 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS1388696036 CEP152 Health Risk Pathogenic —
RS138870709 IRS4 Health Risk Conflicting classifications of pathogenicity —
RS138870937 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
RS138871050 CTR9 Health Risk Conflicting classifications of pathogenicity Predisposition to Wilms tumor, Predisposition to Wilms tumor
RS138871063 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1388716999 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS138871700 PKLR Health Risk Conflicting classifications of pathogenicity —
RS138872001 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS1388721898 PINK1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS138872455 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS1388726872 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS138872867 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS138873192 DRD2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS138873311 ACE Health Risk Pathogenic Renal tubular dysgenesis of genetic origin, Hemorrhage
RS1388736375 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS138874577 DSC3 Health Risk Conflicting classifications of pathogenicity —
RS138874769 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS138876104 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Inborn genetic diseases
RS138876526 ORC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ORC4-related disorder
RS138876970 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS1388769907 B9D2 Health Risk Likely pathogenic Meckel syndrome, type 10
RS138877178 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS138877187 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS138877636 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
RS138878258 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS1388794275 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1388794781 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1388797554 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1388797589 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS138879766 ARHGEF10 Health Risk Conflicting classifications of pathogenicity ARHGEF10-related disorder, ARHGEF10-related disorder
RS138879998 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS138880214 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138880537 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1388805721 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS138880727 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS138880818 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
RS138881435 PCK2 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Thymoma
RS1388815758 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS138882727 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS138882800 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS138884194 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
RS1388842555 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS138885601 ISG15 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS138885901 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS138886038 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS138886378 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Retinitis pigmentosa
RS1388865786 PRPH2 Health Risk Pathogenic/Likely pathogenic Stargardt disease, PRPH2-related disorder
RS138886714 CHMP2B Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder
RS138886791 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1388868629 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1388870915 ACTB Health Risk Likely pathogenic Congenital smooth muscle hamartoma, Congenital smooth muscle hamartoma
RS138887489 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138888144 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Inborn genetic diseases
RS1388884067 DEGS1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS138888836 MKI67 Health Risk Conflicting classifications of pathogenicity —
RS1388888912 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS138889062 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS138889960 NDUFA11 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1388902455 CEP250 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
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