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
RS138890576 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS138891224 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS1388926124 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS138892784 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS1388932284 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS138893620 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2
RS138893744 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS138893925 TNS2 Health Risk Conflicting classifications of pathogenicity —
RS1388950613 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS138895219 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS138895639 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS1388957809 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS138895801 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1388967331 RFXAP Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS138896856 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138897347 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, CD36-related disorder
RS138897963 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS1388990301 KDM5B Health Risk Likely pathogenic KDM5B-related disorder, Intellectual disability
RS1388992742 SLC20A2 Health Risk Conflicting classifications of pathogenicity —
RS138899296 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS138899581 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS138900807 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS138901102 TYROBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138901574 PKP2 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS1389016317 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1389018181 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS138902236 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS138902406 SLC24A5 Health Risk Conflicting classifications of pathogenicity SLC24A5-related disorder, SLC24A5-related disorder
RS1389024546 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS138902646 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1389029860 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS1389034284 PNKP Health Risk Likely pathogenic —
RS138903637 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS138904328 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS138904373 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS138904906 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS138905930 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Inborn genetic diseases
RS1389060581 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1389068504 SLC25A21 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 18, Mitochondrial DNA depletion syndrome 18
RS138906978 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS138907450 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS138908051 LEP Health Risk Conflicting classifications of pathogenicity Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
RS138908058 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, MERTK-related disorder
RS1389085632 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS138908576 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS1389086114 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS138908657 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS138908985 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS138909076 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS138909324 GALNT2 Health Risk Conflicting classifications of pathogenicity —
RS138909849 NUP93 Health Risk Pathogenic Nephrotic syndrome, type 12
RS1389098934 ASCC1 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS138911001 LRP6 Health Risk Conflicting classifications of pathogenicity LRP6-related disorder, Inborn genetic diseases
RS138911275 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Holoprosencephaly sequence
RS1389116834 IL2RG Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency, X-linked
RS1389121348 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1389123610 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS138912422 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1389128798 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1389133986 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS138914144 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, See cases
RS138915052 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS138915369 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Inborn genetic diseases
RS138917078 TLR5 Health Risk Conflicting classifications of pathogenicity —
RS138917116 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS138917386 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS138917435 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS138917503 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS1389175061 VSX2 Health Risk Pathogenic/Likely pathogenic Isolated microphthalmia 2, Microphthalmia
RS138917640 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, BCOR-related disorder
RS1389176938 TMPRSS15 Health Risk Likely pathogenic TMPRSS15-related disorder, TMPRSS15-related disorder
RS1389178206 TNR Health Risk Pathogenic Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus, Neurodevelopmental disorder
RS1389180171 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS138918423 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS138918564 LRRC56 Health Risk Pathogenic LRRC56-related disorder, LRRC56-related disorder
RS1389185868 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1389187507 PIK3R1 Health Risk Likely pathogenic Agammaglobulinemia 7, autosomal recessive
RS1389191920 GP1BB Health Risk Likely pathogenic Mild macrothrombocytopenia, Bernard Soulier syndrome
RS138919671 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS138920330 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS138920776 ASAH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1389208146 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS138921037 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS138921278 OAS1 Health Risk Conflicting classifications of pathogenicity Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS1389218771 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS138922145 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS138922415 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS138922965 GATAD2B Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS138923214 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome
RS138923414 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138924201 KCNV2 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1389245765 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS138924661 DGKE Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS1389255922 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS138925894 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS138925944 CRELD1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect, susceptibility to
RS138925964 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS1389261014 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1389265622 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS138926584 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
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