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
RS1267599270 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1267604574 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1267615713 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1267623393 BSND Health Risk Pathogenic —
RS1267623765 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1267658847 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1267681596 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1267688094 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1267712523 WT1 Health Risk Pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS1267718786 DNAAF2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAAF2-related disorder
RS1267721327 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1267739726 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1267751619 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1267757855 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS1267759029 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast
RS1267766480 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1267767301 MESP2 Health Risk Pathogenic —
RS1267791852 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1267792511 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1267795586 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1267805674 FKRP Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS1267810339 SGCD Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS1267819026 PHYH Health Risk Pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS1267827826 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1267837624 NPHS1 Health Risk Pathogenic —
RS1267839034 COL4A3 Health Risk Pathogenic —
RS1267845940 CACNA1C Health Risk Conflicting classifications of pathogenicity CACNA1C-related disorder, Long QT syndrome
RS1267858785 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1267868260 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1267883785 DNAJC30 Health Risk Pathogenic Leber-like hereditary optic neuropathy, autosomal recessive 1
RS1267947462 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1267970567 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1267995796 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, Epidermolysis bullosa dystrophica
RS1268006720 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1268011878 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1268038830 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS1268045311 GJB2 Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS1268051204 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1268058356 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1268065530 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1268066075 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1268066804 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1268082439 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1268089519 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1268133978 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1268140508 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1268159078 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS1268159081 CCR2 Health Risk Pathogenic Cystic disease of lung, Cystic disease of lung
RS1268163857 TUBGCP6 Health Risk Pathogenic —
RS1268176383 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1268187387 CFAP410 Health Risk Conflicting classifications of pathogenicity —
RS1268191908 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1268194684 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1268200083 DYRK1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DYRK1A-related intellectual disability syndrome
RS1268207836 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS1268227280 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1268230987 DUOX2 Health Risk Likely pathogenic —
RS1268237441 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS1268264761 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1268277078 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS1268280072 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1268293635 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1268304692 COL4A3 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1268307330 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1268309894 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1268310821 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS1268314487 NDUFS7 Health Risk Likely pathogenic —
RS1268330519 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1268362518 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1268377224 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1268405497 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS1268417773 NFIB Health Risk Pathogenic —
RS1268424543 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1268440347 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS1268442199 DSG1 Health Risk Pathogenic —
RS1268443604 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1268456443 TBCK Health Risk Pathogenic —
RS1268475752 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1268475945 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1268481547 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1268482591 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1268486835 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1268491295 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1268502139 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1268506326 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1268507778 GPR179 Health Risk Pathogenic/Likely pathogenic —
RS1268519003 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1268541922 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS1268561604 JAG1 Health Risk Conflicting classifications of pathogenicity Aortic dilatation, Scoliosis
RS1268572514 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1268592638 ABCC6 Health Risk Pathogenic —
RS1268594965 DYSF Health Risk Pathogenic DYSF-related disorder, Autosomal recessive limb-girdle muscular dystrophy
RS1268625226 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1268649558 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1268657053 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1268667021 RELA Health Risk Pathogenic —
RS1268674934 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1268678201 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1268679971 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1268684924 PTRH2 Health Risk Pathogenic/Likely pathogenic Neurologic, endocrine
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