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
RS201641746 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, NBEAL2-related disorder
RS201642067 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS201642901 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201643083 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS201643251 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS201643277 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS201643526 CPA6 Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 5, Febrile seizures
RS201643568 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS201644238 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal macular dystrophy type 2
RS201644343 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Chronic infantile neurological
RS201644674 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, USH1G-related disorder
RS201644919 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS201645318 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS201645895 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS201646155 MYO1F Health Risk Conflicting classifications of pathogenicity —
RS201646745 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Inborn genetic diseases
RS201647015 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS201647225 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, RUNX2-related disorder
RS201647307 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS201647375 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS201647477 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201647575 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS201647627 CACNA1A Health Risk Conflicting classifications of pathogenicity SUDDEN INFANT DEATH SYNDROME, Developmental and epileptic encephalopathy
RS201648021 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201648026 AHNAK2 Health Risk Conflicting classifications of pathogenicity Cervical cancer, Cervical cancer
RS201648982 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS201649053 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS201649140 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS201649676 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Inborn genetic diseases
RS201649680 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS201649703 TCF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201649843 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases
RS201649850 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related disorder
RS201649896 FOXP2 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Inborn genetic diseases
RS201649942 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201650281 KARS1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Progressive cerebellar ataxia
RS201650333 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS201650867 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS201650973 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS2016513741 MYH9 Health Risk Likely pathogenic —
RS201651793 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201651879 USP9X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201651890 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS201651899 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201651982 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS201652272 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS201652457 PCNT Health Risk Conflicting classifications of pathogenicity —
RS201652921 DYM Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 1, DYM-related disorder
RS201653184 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS201653228 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201653410 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201653711 ARID1B Health Risk Pathogenic Inborn genetic diseases, Coffin-Siris syndrome 1
RS201653851 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS201654210 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS201654499 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS201654895 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS201654919 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS201654979 SNAPC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201655861 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201656303 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201656419 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS201656540 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS201656611 SERPINC1 Health Risk Conflicting classifications of pathogenicity Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS201656750 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS201656753 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Inborn genetic diseases
RS201656873 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201657175 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS201657256 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201657283 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS201657446 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Retinitis pigmentosa 39
RS201657455 PLA2G6 Health Risk Conflicting classifications of pathogenicity Abnormality of the nervous system, Infantile neuroaxonal dystrophy
RS201657576 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201657731 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Osteopetrosis
RS201658018 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS201658593 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS201658945 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201659055 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS201659696 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS201659953 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS201660106 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS201660407 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS201661055 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS201661499 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS201661515 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201661871 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS201662134 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201662148 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 12
RS201662175 GUF1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 40
RS201662530 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS201662849 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Inborn genetic diseases
RS201662945 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS201662983 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201663014 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS201663789 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ectodermal dysplasia 14
RS201664019 LONP1 Health Risk Conflicting classifications of pathogenicity See cases, CODAS syndrome
RS201664558 L1CAM Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS201665237 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201665307 TULP3 Health Risk Pathogenic Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
RS201665434 COL4A3 Health Risk Conflicting classifications of pathogenicity COL4A3-related disorder, COL4A3-related disorder
RS201665826 CC2D1A Health Risk Conflicting classifications of pathogenicity —
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