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
RS141608578 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS141608712 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Joubert syndrome 7
RS141609058 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1416092389 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS141609561 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS141609745 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Cardiovascular phenotype
RS1416098529 LPL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS141610287 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1416116174 LIMS2 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
RS141611897 ATP11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141612135 PITX1 Health Risk Conflicting classifications of pathogenicity Micrognathia, Micrognathia
RS1416123568 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS141613848 NHERF1 Health Risk Conflicting classifications of pathogenicity NHERF1-related disorder, Hypophosphatemic nephrolithiasis/osteoporosis 2
RS1416140685 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS141615112 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141615209 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1416152273 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141615275 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS141616288 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS141616435 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1416171624 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS141617218 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1416173655 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1416173690 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS141617635 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS141617868 IFT27 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, IFT27-related disorder
RS141618437 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS141619047 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141619366 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder
RS141619382 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS141619735 SLC2A1 Health Risk Conflicting classifications of pathogenicity Hereditary cryohydrocytosis with reduced stomatin, Epilepsy
RS141619991 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS141620200 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS141620633 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CENPF-related disorder
RS141620718 WASHC4 Health Risk Conflicting classifications of pathogenicity —
RS1416215171 HEXB Health Risk Likely pathogenic Sandhoff disease, See cases
RS141621829 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141621969 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS141622697 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1416227038 SLC25A38 Health Risk Pathogenic —
RS141622989 DNAH9 Health Risk Likely pathogenic —
RS141623142 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1416238665 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1416238727 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1416241924 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS141624266 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS1416248797 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1416252114 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1416255762 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS141626483 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, CD36-related disorder
RS141626745 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS141626835 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Connective tissue disorder
RS1416273781 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS141628352 SOX5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1416288007 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS141629374 CUL9 Health Risk Conflicting classifications of pathogenicity —
RS141629512 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS141629524 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1416296037 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS141630862 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS141631268 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS1416323929 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1416324075 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1416326519 PKD1 Health Risk Pathogenic —
RS1416328981 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1416330878 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS141633339 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS141633456 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS141634151 RRM1 Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
RS141634423 HAL Health Risk association Increased histidine, Increased histidine
RS1416352336 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS141635334 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1416365415 MAFB Health Risk Conflicting classifications of pathogenicity MAFB-related disorder, Inborn genetic diseases
RS1416370111 NLRC4 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS141637316 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1416375704 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS141637645 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS141638079 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS1416386069 C10orf105;CDH23 Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS141638933 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1416393044 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1416395914 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS141639885 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS141640000 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS141640651 TALDO1 Health Risk Conflicting classifications of pathogenicity TALDO1-related disorder, Inborn genetic diseases
RS141640975 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS141641980 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS141642284 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1416427527 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis
RS141644282 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia
RS1416443472 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS141644475 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS141644661 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder
RS141644720 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS1416452389 MSH6 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Lynch syndrome 5
RS1416464603 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS141646758 CFAP52 Health Risk Conflicting classifications of pathogenicity Situs inversus, Situs inversus
RS141647310 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS141647333 MERTK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MERTK-related disorder
RS1416475329 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
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