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
RS774658703 WDR19 Health Risk Pathogenic —
RS774658767 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS774658933 CPAMD8 Health Risk Likely pathogenic CPAMD8-related disorder, CPAMD8-related disorder
RS774659339 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774659393 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, TTN-related disorder
RS774659446 SI Health Risk Pathogenic —
RS774660474 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS774660544 MCM9 Health Risk Pathogenic 46, XX ovarian dysgenesis-short stature syndrome
RS774661170 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS774661219 COL13A1 Health Risk Conflicting classifications of pathogenicity COL13A1-related disorder, Inborn genetic diseases
RS774662487 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS774663053 PPOX Health Risk Pathogenic —
RS774663244 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS774663443 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS774663618 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS774663731 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency
RS774665110 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS774665658 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774667470 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS774668411 CTNND2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774669551 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774669729 F13A1 Health Risk Pathogenic F13A1-related disorder, F13A1-related disorder
RS774669878 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS774670098 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS774670393 TMPRSS3 Health Risk Pathogenic —
RS774671060 SETD2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS774671298 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS774671946 PIBF1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 33, PIBF1-related disorder
RS774673142 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS774674616 EIF2B4 Health Risk Likely pathogenic —
RS774676063 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS774676095 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS774676415 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia
RS774677234 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS774677256 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Retinitis pigmentosa 39
RS774678642 ITGB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bleeding disorder
RS774679103 MSN Health Risk Likely pathogenic —
RS774679104 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS774679828 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS774680517 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS774680682 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS774680760 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS774681591 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS774682680 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774683772 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS774684620 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS774685897 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS774687078 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS774688562 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS774689207 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS774689817 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774692248 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS774692658 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS774693614 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS774694340 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS774694600 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS774694621 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases
RS774695239 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS774696817 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS774698335 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS774698706 NOTCH3 Health Risk Likely pathogenic —
RS774698871 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS774699366 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774699675 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774700553 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS774701000 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS774701387 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS774701514 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS774701563 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome
RS774701696 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS774702094 CEP250 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 2, Gastric cancer
RS774703072 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS774703196 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS774703353 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS774703637 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS774703929 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS774704088 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774705706 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS774705707 NSUN6 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 82
RS774706300 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS774707044 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS774707302 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774707336 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS774707377 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS774708147 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774708318 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774708577 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS774708853 GTPBP3 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS774709893 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774709930 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS774710082 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS774710312 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS774710697 GLMN Health Risk Pathogenic —
RS774711025 GNAS Health Risk Pathogenic/Likely pathogenic GNAS-related disorder, Pseudohypoparathyroidism type I A
RS774711057 TBX4 Health Risk Pathogenic Pulmonary hypertension, primary
RS774711181 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774712511 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS774713377 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS774713681 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Congenital hypothyroidism
RS774714066 CHRNB4 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
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