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
RS1305299665 NAGLU Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1305301849 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1305314328 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1305333312 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1305337032 NPR2;SPAG8 Health Risk Conflicting classifications of pathogenicity Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1
RS1305342570 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS1305369403 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1305404947 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1305408254 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1305436274 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS1305442000 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1305448140 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1305450307 EXOSC9 Health Risk Pathogenic —
RS1305450457 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS1305459936 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1305460528 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1305511499 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1305519459 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1305523001 SMAD2 Health Risk Pathogenic/Likely pathogenic —
RS1305523200 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1305531440 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Hereditary cerebral hemorrhage with amyloidosis
RS1305539945 SPG7 Health Risk Likely pathogenic —
RS1305542291 SCAPER Health Risk Pathogenic/Likely pathogenic Moderate intellectual disability, Rod-cone dystrophy
RS1305555370 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1305562386 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1305592691 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1305602800 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1305605404 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1305609812 COL4A4 Health Risk Conflicting classifications of pathogenicity Microscopic hematuria, COL4A4-related disorder
RS1305630681 SOX18 Health Risk Conflicting classifications of pathogenicity Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
RS1305635836 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1305642045 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1305652887 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1305653433 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1305659962 SPTAN1 Health Risk Likely pathogenic —
RS1305675114 MYO15A Health Risk Pathogenic/Likely pathogenic —
RS1305687130 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1305702728 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1305706304 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS1305708707 FAN1 Health Risk Likely pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS1305711807 TIMM50 Health Risk Pathogenic 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
RS1305721973 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1305740166 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1305782685 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1305784673 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1305797678 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1305819869 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1305821156 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 1, See cases
RS1305836268 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1305848585 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1305851796 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1305851892 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1305866080 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1305905662 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS1305924233 F8 Health Risk Likely pathogenic —
RS1305928655 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1305948343 CHD7 Health Risk Likely pathogenic —
RS1305965061 SOX4 Health Risk Pathogenic Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
RS1305966854 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1305971005 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1305971341 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS1305972382 NCDN Health Risk Pathogenic Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
RS1305986308 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1305999116 TULP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1306034404 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1306035407 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1306036000 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder
RS1306040798 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1306053610 COL6A3 Health Risk Likely pathogenic —
RS1306056914 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1306059500 IARS2 Health Risk Pathogenic —
RS1306107119 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1306111238 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1306112783 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS1306120659 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1306125686 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1306143550 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1306216582 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1306223822 PDHX Health Risk Likely pathogenic —
RS1306228988 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1306231185 MKKS Health Risk Pathogenic Progressive cone dystrophy (without rod involvement), Bardet-Biedl syndrome
RS1306247629 CYP2R1 Health Risk Pathogenic/Likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS1306253222 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1306256963 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS1306259287 EDAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1306265578 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1306272176 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1306288607 CYP11A1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS1306292205 TMPRSS3 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1306330581 CEP78 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS1306336545 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS1306393544 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS1306395752 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS1306403056 GLE1 Health Risk Pathogenic —
RS1306417990 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1306442938 LOXHD1 Health Risk Pathogenic —
RS1306444586 INPP4A Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1306460268 LRP5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1306473047 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1306475361 SDHD Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Paragangliomas with sensorineural hearing loss
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