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
RS200538716 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200539540 TRIO Health Risk Conflicting classifications of pathogenicity Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS200539625 CA5A Health Risk Conflicting classifications of pathogenicity CA5A-related disorder, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS200539652 SIGLEC1 Health Risk Conflicting classifications of pathogenicity —
RS200539827 C1R Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 1
RS200540049 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS200540105 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200540710 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200540781 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS200540800 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200541102 ST3GAL5 Health Risk Pathogenic/Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS200541240 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS200541410 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200541526 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS200541837 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200541858 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS200542051 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS200542052 CDH23 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 1
RS200542111 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS200542114 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS200542239 POMT2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS200542458 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS200542541 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS200543024 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS200543358 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS200543521 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200543687 CCDC88C Health Risk Conflicting classifications of pathogenicity CCDC88C-related disorder, CCDC88C-related disorder
RS200543836 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS200544168 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency
RS200544272 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200544452 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS200544602 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS200544616 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS200544679 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS200544701 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200545007 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200545412 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS200545555 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200546215 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS200546266 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy, RYR1-related disorder
RS200546493 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS200546977 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS200547165 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS200547311 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS200547556 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS200547781 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS200547991 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS200548362 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS200548454 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200548806 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS200548977 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS200549060 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Inborn genetic diseases
RS200549186 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200549195 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS200549250 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200549353 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS200549409 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS200549601 TRIP4 Health Risk Pathogenic Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
RS200549951 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS200550567 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS200550585 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 2
RS200550717 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS200550774 TUBGCP4 Health Risk Conflicting classifications of pathogenicity —
RS200550947 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200551277 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200551525 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS200551639 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS200551690 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS200551849 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS200551904 CHRNA3 Health Risk Pathogenic Urinary bladder, atony of
RS200552004 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200552277 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200552694 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS200553028 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200553089 TLR7 Health Risk Pathogenic Immunodeficiency 74, COVID-19-related
RS200553166 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Inborn genetic diseases
RS200553205 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS200553244 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS200553726 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS200554082 GPR45 Health Risk Conflicting classifications of pathogenicity —
RS200554283 NLRP5 Health Risk Conflicting classifications of pathogenicity —
RS200554477 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS200554635 MUC5B Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Interstitial lung disease 2
RS200554674 DNAJB2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Neuronopathy
RS200554980 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS200555135 HSD3B7 Health Risk Conflicting classifications of pathogenicity —
RS200555425 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200555745 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS200556378 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS200556379 IFT74 Health Risk Pathogenic IFT74-related disorder, IFT74-related disorder
RS200556500 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200556767 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS200556971 HAND1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome, Hypoplastic left heart syndrome
RS200557017 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS200557019 SCNN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudohypoaldosteronism
RS200557085 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200557537 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS200557641 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS200557771 FYCO1 Health Risk Likely pathogenic Cataract 18, Cataract 18
RS200558978 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
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