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
RS772810098 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS772810111 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS772811492 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS772811721 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS772812459 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS772813265 BCAS3 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Hengel-Maroofian-Schols syndrome
RS772813442 GRIP1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS772813676 ASPM Health Risk Conflicting classifications of pathogenicity —
RS772814181 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases
RS77281462 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS772815894 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, type 1
RS772816005 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS772816590 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS772817384 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS772818312 HFE Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hereditary hemochromatosis
RS772818396 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS772818778 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS772819260 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS772819515 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS772819846 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772820136 RFT1 Health Risk Pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS772821016 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS772821141 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS772821743 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS772822136 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS772822506 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS772822759 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS772823083 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C
RS772823352 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS772823363 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772823827 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome
RS772825212 C6 Health Risk Pathogenic —
RS772826932 PSAP Health Risk Likely pathogenic Combined PSAP deficiency, Combined PSAP deficiency
RS772827300 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS772827388 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS772827691 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS772828460 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS772828870 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS772828912 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS772829541 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772831757 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
RS772832052 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS772832233 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS772832695 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS772833696 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772834154 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772834557 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS772835552 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS772836164 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772836203 BCOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oculofaciocardiodental syndrome
RS772836644 IRF7 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 39, Immunodeficiency 39
RS772837341 PCDH19 Health Risk Likely pathogenic developmental delay with seizures, Developmental and epileptic encephalopathy
RS772837483 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS772838513 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS772839266 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772839719 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Polydactyly
RS772840335 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS772841538 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS772842119 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772842256 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS772842361 RAB3GAP1 Health Risk Pathogenic —
RS772842729 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS772843353 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772843585 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS772843652 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS772845211 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS772845446 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS772846629 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772846797 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS772847237 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77284892 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS772849642 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772850804 LCT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772851638 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS772852025 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS772852467 USH2A Health Risk Conflicting classifications of pathogenicity —
RS772852668 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Hearing impairment
RS772852905 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS772853856 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS772854423 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS772858451 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772858764 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS772858807 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772860370 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS772860507 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS772860611 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS772860745 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS772860949 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS772862268 GJB6 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Deafness, Nonsyndromic Deafness
RS772862676 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS772862920 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS772863037 TNFRSF11A Health Risk Conflicting classifications of pathogenicity —
RS772863270 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS772865066 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS772865214 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS772865627 ADCY10 Health Risk Likely pathogenic —
RS772866081 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS772867219 WARS2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, mitochondrial
RS772867888 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS772867899 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
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