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
RS7574865 STAT4 Health Risk risk factor Systemic lupus erythematosus, susceptibility to
RS757486575 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 4
RS757487948 SAG Health Risk Conflicting classifications of pathogenicity —
RS757488006 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS757488156 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS757488419 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS757488824 HID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757489759 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS757490496 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS757491995 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS757493420 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Joubert syndrome 26
RS757493661 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757494249 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS757495549 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Aortic valve disease 1
RS757497167 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS757497272 SBDS Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 1, Aplastic anemia
RS757497342 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS757498880 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS757499157 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, EXT1-related disorder
RS757499322 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Chuvash polycythemia
RS757499508 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS757500301 ATR Health Risk Pathogenic/Likely pathogenic Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1
RS757500718 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS757501405 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS757501817 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS757501907 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757503048 AFG2B Health Risk Conflicting classifications of pathogenicity SPATA5L1-associated disorder, Neurodevelopmental disorder with hearing loss and spasticity
RS757503642 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS757504102 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS757504141 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS757504414 SCLT1 Health Risk Pathogenic —
RS757504416 COL2A1 Health Risk Likely pathogenic —
RS757505325 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS757508359 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS757508400 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS757508857 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS757511354 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757511744 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS757511770 FMN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 47
RS757512135 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757512142 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757512219 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS757512425 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS757517233 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757519339 TTN Health Risk Conflicting classifications of pathogenicity —
RS757519926 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757520757 ABCA12 Health Risk Pathogenic Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 4B
RS757520959 CYP1B1 Health Risk Pathogenic/Likely pathogenic Primary congenital glaucoma, Congenital glaucoma
RS757521297 IKZF1 Health Risk Likely pathogenic —
RS757521428 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS757521927 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS757522804 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS757523045 COL18A1 Health Risk Likely pathogenic Knobloch syndrome, Knobloch syndrome
RS757523840 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS757524187 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS757524798 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS757525366 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS757525434 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS757525993 TMPRSS15 Health Risk Likely pathogenic —
RS757526895 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS757527279 MIB1 Health Risk Likely pathogenic Left ventricular noncompaction 7, Left ventricular noncompaction 7
RS757530487 TFAP2A Health Risk Conflicting classifications of pathogenicity —
RS757530565 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS757531583 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Inborn genetic diseases
RS757531591 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS757531969 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS757532106 SCN5A Health Risk Conflicting classifications of pathogenicity 8 conditions, Cardiac arrhythmia
RS757534022 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757534069 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757534240 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS757534748 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS757535186 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS757536535 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy
RS757536610 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757536895 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757538583 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS757539839 PJVK Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS757539874 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757540625 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS757540694 AMN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imerslund-Grasbeck syndrome
RS757544325 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757545714 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS757545777 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS757546009 MCM8 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 10, Premature ovarian failure 10
RS757546415 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757546480 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757546528 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related disorder
RS757546708 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS757548236 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS757548746 COL17A1 Health Risk Pathogenic —
RS757548934 MMAA Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic aciduria
RS757549770 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS757550176 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS757550207 COL13A1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS757551395 RAB3GAP2 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS757552268 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder
RS757553187 CARD11 Health Risk Likely pathogenic —
RS757553189 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS757554598 FOLR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS757554863 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
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