SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886058019 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS886058030 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS886058053 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS886058057 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS886058058 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS886058059 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS886058099 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS886058120 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS886058131 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS886058141 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS886058149 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS886058198 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS886058209 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS886058214 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS886058222 TP63 Health Risk Likely pathogenic Split hand-foot malformation 4, Split hand-foot malformation 4
RS886058297 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Malignant tumor of esophagus
RS886058298 TGFBR2 Health Risk Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS886058299 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Loeys-Dietz syndrome 2, Diabetic retinopathy
RS886058300 TGFBR2 Health Risk Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS886058301 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Loeys-Dietz syndrome 2, Malignant tumor of esophagus
RS886058384 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS886058460 SCN5A Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS886058461 SCN5A Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS886058481 ANO10 Health Risk Pathogenic —
RS886058518 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS886058521 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS886058578 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS886058579 ITPR1 Health Risk Pathogenic —
RS886058580 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS886058582 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8
RS886058612 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS886058613 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS886058618 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS886058637 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS886058642 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS886058645 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS886058677 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS886058705 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS886058766 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS886058779 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS886058800 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS886058900 GBE1 Health Risk Pathogenic/Likely pathogenic GBE1-related disorder, Glycogen storage disease
RS886058914 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS886058980 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS886059008 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS886059014 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS886059042 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS886059058 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS886059059 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS886059136 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS886059158 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS886059182 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS886059203 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS886059227 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS886059229 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS886059266 SLC25A4 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
RS886059298 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS886059398 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS886059439 SGCB Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886059443 PDGFRA Health Risk Conflicting classifications of pathogenicity Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor
RS886059444 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS886059446 PDGFRA Health Risk Conflicting classifications of pathogenicity Idiopathic hypereosinophilic syndrome, Hereditary cancer-predisposing syndrome
RS886059447 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS886059495 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS886059521 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS886059522 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS886059523 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS886059528 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS886059529 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS886059531 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS886059532 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS886059533 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS886059536 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS886059537 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS886059538 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS886059539 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS886059633 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS886059635 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS886059641 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS886059695 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS886059696 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS886059702 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS886059793 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS886059794 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS886059798 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS886059799 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS886059801 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS886059821 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS886059894 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS886059902 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS886059965 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS886059967 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS886059968 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS886059974 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS886059985 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS886059990 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
RS886060014 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS886060015 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS886060034 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS886060088 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
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