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
RS138927584 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS138928206 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1389288169 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS138929400 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS138929605 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome
RS1389301978 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1389305246 PRPF31 Health Risk Pathogenic —
RS138930771 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1389310342 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS138931129 TPO Health Risk Likely pathogenic TPO-related disorder, Deficiency of iodide peroxidase
RS1389312412 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS138932379 BEST1 Health Risk Conflicting classifications of pathogenicity —
RS138932866 TMEM187 Health Risk Conflicting classifications of pathogenicity —
RS1389337955 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1389340786 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS138934573 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Inborn genetic diseases
RS138936101 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS1389369745 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS1389370558 ATP2A1 Health Risk Likely pathogenic Brody myopathy, Brody myopathy
RS138937107 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases
RS1389373911 ATIC Health Risk Pathogenic AICA-ribosiduria, AICA-ribosiduria
RS1389374032 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1389374650 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS138937534 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS138938035 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS1389381980 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS138938731 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, ADAM9-related disorder
RS138939602 GDI1 Health Risk Conflicting classifications of pathogenicity —
RS1389398299 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS138940904 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS1389409325 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS138941073 NDUFS4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS138941496 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138942006 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1389423879 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS138943074 PAPSS2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS138943091 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS138943405 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Pendred syndrome
RS138943514 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS138943874 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS138943954 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS138944426 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS138945081 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Muscular dystrophy
RS138945146 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS138945257 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1389455796 YWHAG Health Risk Pathogenic Developmental and epileptic encephalopathy, 56
RS1389457388 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1389460034 ALDH7A1 Health Risk Pathogenic —
RS1389460770 FRAS1 Health Risk Likely pathogenic —
RS138946894 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Autoinflammatory syndrome
RS1389473144 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS138947726 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS138947766 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS138948307 PLOD2 Health Risk Conflicting classifications of pathogenicity —
RS138948335 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1389484271 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1389500636 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS138950267 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS1389503709 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1389512342 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1389512878 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS138951581 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138951890 LDB3 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Cardiovascular phenotype
RS1389523126 MIR6511B1;PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1389523495 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS138952646 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1389529434 CACNA2D1 Health Risk Pathogenic Developmental and epileptic encephalopathy 110, Developmental and epileptic encephalopathy 110
RS1389533007 FA2H Health Risk Pathogenic Hereditary spastic paraplegia 35, Spastic paraplegia
RS138953348 CEP97 Health Risk Conflicting classifications of pathogenicity —
RS138954200 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS138954293 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, ZNF469-related disorder
RS138954776 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1389548210 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS138954932 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, Amish lethal microcephaly
RS138955440 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1389559363 CD79B Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 6, autosomal recessive
RS138956153 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS138956788 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, SKIC3-related disorder
RS138957986 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS1389582732 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipidemia, familial combined
RS138958351 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Inborn genetic diseases
RS138958687 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS138958733 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1389588817 CYP1B1 Health Risk Pathogenic Glaucoma 3A, CYP1B1-related glaucoma with or without anterior segment dysgenesis
RS138958917 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia, Retinal dystrophy
RS138959688 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS1389599028 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1389614116 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS138961848 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS138962748 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS138962786 PCNT Health Risk Conflicting classifications of pathogenicity Global developmental delay, Microcephalic osteodysplastic primordial dwarfism type II
RS138964370 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS1389647533 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1389651809 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS138965309 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS138965708 RLBP1 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Bothnia retinal dystrophy
RS1389657207 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1389665235 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1389667497 FOXRED1 Health Risk Likely pathogenic —
RS138967272 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
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