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
RS145180240 BCKDK Health Risk Conflicting classifications of pathogenicity Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS1451806881 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS145181319 DMD Health Risk Conflicting classifications of pathogenicity Dystrophin deficiency, Cardiomyopathy
RS145181563 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1451816005 FLT4 Health Risk Pathogenic/Likely pathogenic Hereditary lymphedema type I, FLT4-related disorder
RS145183196 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS145183203 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS145183319 MRPL3 Health Risk Conflicting classifications of pathogenicity —
RS145183384 TTN Health Risk Conflicting classifications of pathogenicity TTN-related myopathy, TTN-related myopathy
RS145183726 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS145183977 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS145184122 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS145184183 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS145184332 CCDC8 Health Risk Conflicting classifications of pathogenicity CCDC8-related disorder, Inborn genetic diseases
RS145184527 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS145184714 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS145186610 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Inborn genetic diseases
RS145187500 DNAJB13 Health Risk Conflicting classifications of pathogenicity DNAJB13-related disorder, DNAJB13-related disorder
RS145188410 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1451891780 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145189179 DCAF6 Health Risk Conflicting classifications of pathogenicity Cerebral visual impairment and intellectual disability, DCAF6-related condition
RS145189325 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS145189350 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS145189838 PLOD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145189950 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS145190029 PSMB4 Health Risk Conflicting classifications of pathogenicity —
RS1451904718 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS145190613 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS1451908310 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1451909068 CACNA2D2 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy with seizures and variable developmental delay, Early-infantile DEE
RS145191000 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS145191057 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS145191476 GPSM2 Health Risk Pathogenic/Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS145191532 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS145191932 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS145191978 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS145192236 LIM2 Health Risk Conflicting classifications of pathogenicity Cataract 19 multiple types, Cataract 19 multiple types
RS145192716 MECR Health Risk Conflicting classifications of pathogenicity Dystonia, childhood-onset
RS145193116 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS1451937043 TNFRSF11A Health Risk Likely pathogenic —
RS145194293 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS145194882 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS145195048 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS145195149 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS145195562 UROD Health Risk Pathogenic Familial porphyria cutanea tarda, Thyroid cancer
RS1451961075 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS145196893 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145197251 CLDN1 Health Risk Conflicting classifications of pathogenicity CLDN1-related disorder, CLDN1-related disorder
RS1451972961 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS145197904 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases
RS1451982228 GJB2 Health Risk Conflicting classifications of pathogenicity Hearing loss, GJB2-related disorder
RS1451984094 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS145199539 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 28
RS145199888 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1452005208 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS145200529 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145201012 TONSL Health Risk Conflicting classifications of pathogenicity TONSL-related disorder, Inborn genetic diseases
RS145201197 LTBP2 Health Risk Conflicting classifications of pathogenicity —
RS145201961 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS145201970 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS1452025549 NPHP3;NPHP3-ACAD11 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia, Renal-hepatic-pancreatic dysplasia
RS145202579 ITGB4 Health Risk Pathogenic —
RS1452031238 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS145203663 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145203783 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS145204031 SYNE4 Health Risk Conflicting classifications of pathogenicity SYNE4-related disorder, SYNE4-related disorder
RS145204073 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1452048149 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS145206063 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS145206161 ZNF592 Health Risk Conflicting classifications of pathogenicity —
RS1452062094 GATA5 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
RS1452063514 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS145206425 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS145208009 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS145208127 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Cervical cancer
RS145208175 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS145208539 OTOF Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS145209035 BEST1 Health Risk Conflicting classifications of pathogenicity BEST1-related disorder, BEST1-related disorder
RS145210501 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS145210664 SLC2A2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS1452109473 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS145211131 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1452126817 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS145213666 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS145213771 MYH7 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1452140139 PHKG2 Health Risk Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1452146532 NUP188 Health Risk Pathogenic Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS1452147400 ABHD16A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia 86
RS145215218 GJA1 Health Risk Conflicting classifications of pathogenicity Syndactyly type 3, Oculodentodigital dysplasia
RS145215857 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS1452163185 SYNE1 Health Risk Likely pathogenic —
RS145216882 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS145217620 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1452179158 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS145218071 DRD3 Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS1452185692 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS145218712 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS145218891 ZAP70 Health Risk Conflicting classifications of pathogenicity Autoimmune disease, multisystem
RS145219220 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS145219772 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, ANO5-Related Muscle Diseases
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