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
RS1443770274 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1443772167 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS144378484 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS1443792358 DNAJC12 Health Risk Pathogenic/Likely pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS144379529 IFI27L1 Health Risk Likely risk allele Susceptibility to severe COVID-19, Thymoma
RS144381053 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1443828697 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144383122 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS144383140 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS144383442 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS1443837551 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS144384395 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS1443844938 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1443845070 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS144385811 ACACB Health Risk Conflicting classifications of pathogenicity ACACB-related disorder, ACACB-related disorder
RS1443858896 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1443859067 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS144386518 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS144387303 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1443873131 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1443883930 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Distal renal tubular acidosis
RS144389038 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1443891718 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS144389360 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, BMPR2-related disorder
RS1443902661 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS144390464 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144391493 APC2 Health Risk Conflicting classifications of pathogenicity APC2-related disorder, Inborn genetic diseases
RS144391535 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CPLANE1-related disorder
RS1443916294 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1443918598 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1443920683 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS144392839 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Woolly hair-skin fragility syndrome
RS1443929462 AMH Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS144393366 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS144393784 SLC25A19 Health Risk Conflicting classifications of pathogenicity Progressive demyelinating neuropathy with bilateral striatal necrosis, Inborn genetic diseases
RS144393886 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Inborn genetic diseases
RS1443962821 ATR Health Risk Pathogenic —
RS1443963090 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS144396411 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Gastric cancer
RS144396624 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS144397063 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Exostoses
RS1443981616 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS144398602 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS144399404 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS1443994613 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144399762 PGK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS144400071 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS144401211 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1444012324 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS144401501 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS144401534 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS144401814 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1444023334 WDFY3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1444024910 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS144403117 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS144403346 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1444034224 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1444037196 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS144403747 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS144403828 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, CDH3-related disorder
RS1444049793 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS144405088 TRAF3IP2 Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS144405093 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO18B-related disorder
RS144405126 ARSI Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1444052168 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS144405450 DNAAF5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS1444056772 ABCB4 Health Risk Conflicting classifications of pathogenicity Low phospholipid associated cholelithiasis, Cholestasis
RS1444062882 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS1444065478 CA2 Health Risk Pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS1444066075 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS144406887 ANO6 Health Risk Pathogenic —
RS1444075141 ASNS Health Risk Pathogenic —
RS144409045 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS144411000 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS144411003 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Inborn genetic diseases
RS144411158 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS1444115520 EYS Health Risk Likely pathogenic —
RS144411579 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 6
RS144411585 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS144412275 CLCN2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with mild cerebellar ataxia and white matter edema, CLCN2-related disorder
RS144412585 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS144414073 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444145965 KIZ Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 69, Retinitis pigmentosa 69
RS144414806 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS144415484 EYA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1J
RS1444157818 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS144415945 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS144417124 DGKE Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS144418335 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS144418713 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS144419479 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS144419486 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS144420157 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, ABHD5-related disorder
RS1444208046 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1444213066 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1444216187 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS144421774 DNAH10 Health Risk Conflicting classifications of pathogenicity DNAH10-related disorder, DNAH10-related disorder
RS144421849 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS144421853 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS144422014 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Acute myeloid leukemia
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