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
RS145513717 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS145513733 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism
RS145514163 CLTCL1 Health Risk Conflicting classifications of pathogenicity —
RS145514333 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS145515028 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1455153945 ALPL Health Risk Likely pathogenic —
RS1455161894 NUP188 Health Risk Likely pathogenic —
RS145516713 CANT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145517108 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS145518263 ADAM10 Health Risk risk factor Alzheimer disease 18, Alzheimer disease 18
RS145518377 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS145518427 TUBGCP6 Health Risk Pathogenic —
RS145519139 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS145519500 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CODAS syndrome
RS1455198803 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145520487 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS145520567 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS145521296 ZC3H14 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 56
RS1455214605 MSH3 Health Risk Pathogenic —
RS145521868 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS145522851 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
RS145522874 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455234951 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1455246648 MAK Health Risk Pathogenic —
RS145524720 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS145525029 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa
RS1455251047 SEC24D Health Risk Likely pathogenic —
RS145525914 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS145526996 ABCB6 Health Risk Conflicting classifications of pathogenicity Protoporphyria, erythropoietic
RS145527336 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1455274169 ATP8B1 Health Risk Pathogenic —
RS145527531 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1455277014 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS145529148 DPYD Health Risk Conflicting classifications of pathogenicity —
RS145529594 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS145529777 SPP2 Health Risk Conflicting classifications of pathogenicity —
RS145530082 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS1455304547 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS145530456 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS1455317777 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1455336434 SETX Health Risk Pathogenic —
RS145533806 KIF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145533919 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS145534539 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145535350 ROBO4 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 3, Aortic valve disease 3
RS145535498 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS145535502 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS145535636 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS145535775 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS145536062 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS1455361577 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS145536461 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455367784 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS1455374554 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS145538358 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS145538723 CHST3 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS145538948 ZP2 Health Risk Conflicting classifications of pathogenicity —
RS1455395828 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1455396332 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS145540754 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1455410186 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1455411788 GJC2 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, Spastic paraplegia
RS145541565 REEP6 Health Risk Conflicting classifications of pathogenicity REEP6-related disorder, Retinal dystrophy
RS1455416289 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS145541719 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, AP4E1-related disorder
RS145541911 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly
RS145543466 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS1455436528 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1455445683 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1455447337 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS145545997 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS145546137 EDN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455462308 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS1455462438 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1455470131 CNNM4 Health Risk Pathogenic Jalili syndrome, Retinal dystrophy
RS145547375 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1455476600 PRDM5 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS145549773 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS145549969 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS145550325 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS1455506883 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome
RS1455507192 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS145551245 CARD6 Health Risk Conflicting classifications of pathogenicity —
RS145551468 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455515948 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1455516797 MYO15A Health Risk Pathogenic —
RS145551875 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS145552208 FRMD7 Health Risk Conflicting classifications of pathogenicity FRMD7-related disorder, Inborn genetic diseases
RS145552439 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS145552478 CDT1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 4, CDT1-related disorder
RS1455525236 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1455526809 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS145552797 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS145553035 TIMP3 Health Risk Conflicting classifications of pathogenicity Sorsby fundus dystrophy, Sorsby fundus dystrophy
RS145553827 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS145554525 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS145554982 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Gastric cancer
RS1455551840 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145555213 FARS2 Health Risk Likely pathogenic Hereditary spastic paraplegia 77, Combined oxidative phosphorylation defect type 14
RS1455553231 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
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