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
RS1300048405 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS1300079699 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS130008 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1300087539 MYO15A Health Risk Pathogenic —
RS1300096139 TUBB1 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS1300102277 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder
RS1300106191 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1300138505 CYP4V2 Health Risk Pathogenic Familial pancreatic carcinoma, Bietti crystalline corneoretinal dystrophy
RS1300178432 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1300189424 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1300199281 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1300203299 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1300228825 ABHD12 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1300237940 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1300239598 ALPL Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS1300242966 MED13 Health Risk Pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS1300245991 PRUNE1 Health Risk Pathogenic —
RS1300254603 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1300257600 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1300267158 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1300268316 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS1300268466 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1300297240 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS1300304839 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Thrombomodulin-related bleeding disorder
RS1300305757 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1300327079 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1300330804 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1300333132 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS1300333437 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1300341137 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1300362447 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1300365457 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Myopathy caused by variation in FKRP
RS1300370754 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS1300376926 DGAT1 Health Risk Likely pathogenic —
RS1300427865 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1300439797 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1300446486 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS1300454570 NR2E3 Health Risk Pathogenic —
RS1300461861 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1300489768 POLE Health Risk Pathogenic —
RS1300490966 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1300492434 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related disorder
RS1300516636 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1300536359 SLITRK6 Health Risk Likely pathogenic —
RS1300547552 MMUT Health Risk Pathogenic —
RS1300550278 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1300582033 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1300583921 CWC27 Health Risk Pathogenic —
RS1300586902 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1300597092 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1300600302 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, Immunodeficiency 11b with atopic dermatitis
RS1300618047 POLR3B Health Risk Likely pathogenic —
RS1300644959 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1300657058 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1300664235 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS1300667536 SLC12A3 Health Risk Pathogenic —
RS1300669537 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1300685456 GPIHBP1 Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type 1D
RS1300692476 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1300725076 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1300729090 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS1300745978 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1300763823 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS1300770638 GNPAT Health Risk Pathogenic —
RS1300771163 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1300792331 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1300812494 MUTYH Health Risk Pathogenic/Likely pathogenic Gastric cancer, Familial adenomatous polyposis 2
RS1300819259 MAK Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1300843648 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, ADA2-related disorder
RS1300848371 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1300851687 PIGQ Health Risk Likely pathogenic Epilepsy, Epilepsy
RS1300877733 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1300885934 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1300893995 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1300924648 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 28
RS1300925640 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1300934931 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1300936013 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1300956481 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1300968279 TTN Health Risk Conflicting classifications of pathogenicity —
RS1300977671 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1300981240 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1300984501 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS1300985005 ARID1B Health Risk Pathogenic —
RS1300996807 CFH Health Risk Pathogenic, low penetrance Hemolytic uremic syndrome, atypical
RS1301023135 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1301025671 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1301033567 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1301054864 SI Health Risk Pathogenic —
RS1301059768 ASL Health Risk Conflicting classifications of pathogenicity —
RS1301059856 DPF2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS1301078575 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1301097050 RTTN Health Risk Pathogenic —
RS1301110174 BSND Health Risk Likely pathogenic Bartter syndrome, Bartter syndrome
RS1301119042 C2 Health Risk Likely pathogenic —
RS1301127877 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1301129751 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1301139848 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1301146115 RINT1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 3, Infantile liver failure syndrome 3
RS1301146300 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
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