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
RS190704778 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS190705322 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS190705834 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS190706099 PRMT7;SLC7A6OS Health Risk Conflicting classifications of pathogenicity Generalized myoclonic seizure, Epilepsy
RS1907061034 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190707335 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1907103040 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1907108266 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS1907110994 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190712778 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS190714197 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Hereditary cancer-predisposing syndrome
RS1907143128 DGKE Health Risk Pathogenic/Likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome
RS1907143600 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190718487 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS1907212702 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190721271 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1907214691 COL1A1 Health Risk Pathogenic —
RS190721759 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS190724342 FUS Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS1907271302 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS190727141 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1907272370 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS190728953 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1907299746 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS190731555 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS190731787 CASR Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Autosomal dominant hypocalcemia 1
RS190732238 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1907323150 MLYCD Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1907330109 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1907332311 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190734512 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS1907351704 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, 8 conditions
RS1907352884 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1907355667 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1907377731 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907395416 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1907400034 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1907401835 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS190741127 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS1907417140 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907418203 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907456419 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907457376 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190746040 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1907472729 GH1 Health Risk Pathogenic Ateleiotic dwarfism, Ateleiotic dwarfism
RS1907477506 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1907478805 GH1 Health Risk Likely pathogenic Ateleiotic dwarfism, Ateleiotic dwarfism
RS1907512918 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS1907516553 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS190751684 VAC14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1907543361 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907549643 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS1907566530 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, COL1A1-related disorder
RS1907593112 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS190761354 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS1907617224 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190765116 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1907669327 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907672538 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1907674328 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS190769116 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
RS1907706259 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1907723511 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907746069 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907769451 COL1A1 Health Risk Pathogenic —
RS1907770102 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS190778135 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome
RS1907787005 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907788208 AFG3L2 Health Risk Likely pathogenic —
RS1907793241 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190782130 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS1907854360 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190786280 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS190787930 CYLD Health Risk Conflicting classifications of pathogenicity Familial cylindromatosis, Brooke-Spiegler syndrome
RS1907889665 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS190789703 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1907906060 AFG3L2 Health Risk Pathogenic Spastic ataxia 5, Spastic ataxia 5
RS1907907851 AFG3L2 Health Risk Pathogenic Spastic ataxia 5, Spastic ataxia 5
RS190790872 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS190791051 PCARE Health Risk Conflicting classifications of pathogenicity —
RS1907920572 COL1A1 Health Risk Pathogenic —
RS1907921633 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1907925754 COL1A1 Health Risk Likely pathogenic —
RS190793093 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS190794874 LMNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1907977856 CD79B Health Risk Likely pathogenic Malignant lymphoma, large B-cell
RS1908000576 NARS1 Health Risk Pathogenic Mitochondrial complex 1 deficiency, nuclear type 35
RS1908000933 NARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS1908005677 NARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS190803359 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS1908037067 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1908050941 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS190807750 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1908083033 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1908087291 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1908097162 SOX9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1908098789 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1908102423 LOC108021846;SOX9 Health Risk Pathogenic —
RS1908139210 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1908139397 SOX9 Health Risk Pathogenic —
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