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
RS201388114 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS201388509 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201388780 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS201388841 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS201389126 UQCC2 Health Risk Conflicting classifications of pathogenicity —
RS201389127 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS201389281 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS201389324 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS201389358 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201389731 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS201390145 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS201390600 TTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201390755 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201390756 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS201390928 SLC16A12 Health Risk Conflicting classifications of pathogenicity —
RS201391050 AHI1 Health Risk Pathogenic Joubert syndrome 3, Retinal dystrophy
RS201391210 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS201391408 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS2013914972 IGF1R Health Risk Pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS201391886 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS201392317 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201392451 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS201392536 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS201392574 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201392711 HARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 2, Perrault syndrome 2
RS201392846 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Immunodeficiency 23
RS201393026 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Aortic aneurysm
RS201393279 ROBO4 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 3, Bicuspid aortic valve
RS201393573 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS201393598 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Magenis syndrome
RS201394102 DLL1 Health Risk Conflicting classifications of pathogenicity DLL1-related disorder, DLL1-related disorder
RS201394117 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS201394520 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS201395077 NFKB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Immunodeficiency
RS201395198 PI4KA Health Risk Likely pathogenic Spastic paraplegia 84, autosomal recessive
RS201395553 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS201395630 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201395636 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS201395711 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS201395793 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder
RS201395805 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS201395913 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201395930 STIM1 Health Risk Conflicting classifications of pathogenicity Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS201395979 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS201396068 GRM6 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Retinal dystrophy
RS201396725 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS201396764 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS201397168 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 3
RS201397195 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS201397391 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS201397427 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS201397661 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS201397978 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS201398055 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS201398260 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiomyopathy
RS201398337 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS201398339 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS201398669 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS201398979 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Inborn genetic diseases
RS201399007 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease X-linked dominant 1
RS201399155 NBEA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NBEA-related disorder
RS201399235 COL13A1 Health Risk Conflicting classifications of pathogenicity —
RS201399334 ITM2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201399382 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Inborn genetic diseases
RS201399429 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS201399968 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS201400055 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS201400208 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, 11 conditions
RS201400267 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201400523 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201401001 USH2A Health Risk Conflicting classifications of pathogenicity —
RS201401034 POLR3B Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS201401085 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201402165 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS201402594 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS201402970 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201403066 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Hematuria
RS201403149 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS201403389 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS201403495 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201403630 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201403794 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS201404177 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201404467 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS201404524 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS201404573 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS201404751 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS201404949 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201405287 PKP2 Health Risk Pathogenic Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS201405429 ROBO3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gaze palsy
RS201405662 IQCB1 Health Risk Pathogenic Leber congenital amaurosis, Nephronophthisis
RS201406216 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS201406396 LMF1 Health Risk Likely pathogenic —
RS201406712 PKLR Health Risk Conflicting classifications of pathogenicity —
RS201406891 POU1F1 Health Risk Conflicting classifications of pathogenicity Cholangiocarcinoma, Cholangiocarcinoma
RS201406974 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS201407161 TNK2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive infantile epilepsy, Parkinson disease
RS201407276 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS201407486 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS201408009 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
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