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
RS773047607 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS773047717 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS773048192 ANO5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gnathodiaphyseal dysplasia
RS773048903 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS77304928 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS773049314 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, INVS-related disorder
RS773049803 ASPA Health Risk Likely pathogenic Canavan Disease, Familial Form
RS773050231 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS773050511 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS773050995 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Inborn genetic diseases
RS773051177 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS773052129 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS773052355 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS773053071 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS773053547 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS773055539 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773056086 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS77305684 PMPCB Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases
RS773057074 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS773057749 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS773059458 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS773059864 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS773060450 GLMN Health Risk Pathogenic/Likely pathogenic Glomuvenous malformation, GLMN-related disorder
RS773061439 GPAA1 Health Risk Likely pathogenic —
RS773061639 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS773061649 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773063199 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS773063554 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS773064014 POLRMT Health Risk Conflicting classifications of pathogenicity —
RS773064083 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773064101 FLVCR1 Health Risk Pathogenic/Likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS773064328 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS773065162 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS773065230 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS773065850 PDE6A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 43
RS773066265 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS773066561 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS773066825 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Becker muscular dystrophy
RS77306735 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS773068151 GPSM2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS773069229 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS773069554 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS773070579 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS773071023 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Inborn genetic diseases
RS773072116 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773072573 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS773073663 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS773073914 TTN Health Risk Conflicting classifications of pathogenicity —
RS773074044 LPIN2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Majeed syndrome
RS773074921 CD55 Health Risk Pathogenic/Likely pathogenic Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS773075737 ALPL Health Risk Likely pathogenic —
RS773077664 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Cleft palate, Cleft palate
RS773078769 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS773080293 MCPH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773080572 CNTN6 Health Risk Likely pathogenic Autistic behavior, Autistic behavior
RS773080803 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS773081522 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS773082728 MAGI2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 15, Nephrotic syndrome 15
RS773082759 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS773083669 GLE1 Health Risk Likely pathogenic Lethal congenital contractural syndrome Finnish type, Lethal congenital contractural syndrome Finnish type
RS773084870 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773085612 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Age related macular degeneration 13
RS773085638 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS773085763 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS773087322 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS773087549 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS773089115 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS773089218 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS773092889 ATP8B1 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS773093556 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS773094831 MSH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS773094891 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS773095217 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Immunodeficiency 67
RS773095419 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS773095683 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS773095721 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS773095902 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS773097109 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D1
RS773097190 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS773098743 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773098995 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS773099504 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS773100466 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS773100834 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS773101138 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS773102625 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS773102942 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS773103242 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS773104019 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS773105182 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS773107808 CTH Health Risk Likely pathogenic Cystathioninuria, Cystathioninuria
RS773108803 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS773109018 USH2A Health Risk Conflicting classifications of pathogenicity —
RS773109542 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS773109683 SOX10 Health Risk Conflicting classifications of pathogenicity PCWH syndrome, Waardenburg syndrome type 2E
RS773109986 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773112247 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS773112898 DVL1 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS773112917 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773113065 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
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