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
RS11568437 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS1156844272 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS115684579 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS11568513 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, SLC22A5-related disorder
RS11568514 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, See cases
RS11568520 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS11568530 SLC17A8 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS1156864297 MFSD8 Health Risk Likely pathogenic Macular dystrophy with central cone involvement, Macular dystrophy with central cone involvement
RS115686643 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1156871090 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS115687408 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS1156880851 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1156891581 RPGR Health Risk Conflicting classifications of pathogenicity X-linked cone-rod dystrophy 1, Primary ciliary dyskinesia
RS1156894268 IRF7 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 39, Immunodeficiency 39
RS1156900338 IKBKG Health Risk Pathogenic —
RS1156904586 ATP8A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Cerebellar ataxia
RS1156913215 BBS10;OSBPL8 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1156940293 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1156948793 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS11569534 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS11569541 C3 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, Atypical hemolytic-uremic syndrome
RS1156965453 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Inborn genetic diseases
RS1156976510 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1156977888 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1156984408 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1156986606 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS115698674 SH2B1 Health Risk Conflicting classifications of pathogenicity SH2B1-related disorder, SH2B1-related disorder
RS1156987118 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS115698972 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, IKBKB-related disorder
RS11570045 MYBPC3 Health Risk Likely pathogenic —
RS11570060 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
RS11570077 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS11570079 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS11570112 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS115701916 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS11570255 EDN3 Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1157030138 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1157052586 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS1157058742 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1157060069 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS11570607 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Spastic ataxia
RS1157065841 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1157079200 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1157097082 SNAP29 Health Risk Likely pathogenic —
RS1157097825 ACTC1 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Hypertrophic cardiomyopathy 11
RS115710123 SEC63 Health Risk Conflicting classifications of pathogenicity Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, SEC63-related disorder
RS1157108621 CDH3 Health Risk Pathogenic Retinal dystrophy, Congenital hypotrichosis with juvenile macular dystrophy
RS11571098 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS1157132860 SMO Health Risk Pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS1157135425 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS11571509 TGIF1 Health Risk Conflicting classifications of pathogenicity Disorder of sexual differentiation, Disorder of sexual differentiation
RS11571587 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS115716101 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS11571640 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS11571655 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS11571658 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS11571659 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS11571660 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS115716690 KCNJ11 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS11571675 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS115717092 CFAP61 Health Risk Pathogenic Spermatogenic failure 84, Spermatogenic failure 84
RS1157173095 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS11571747 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1157175258 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1157177960 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS11571819 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1157198543 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS11572191 CYP2J2 Health Risk association Pulmonary disease, chronic obstructive
RS1157219727 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1157238971 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Meckel-Gruber syndrome
RS1157259307 ARSG Health Risk Pathogenic —
RS1157267701 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1157280571 F12 Health Risk Pathogenic FACTOR XII (WASHINGTON D.C.), FACTOR XII (WASHINGTON D.C.)
RS1157281284 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1157287613 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS1157288312 ERCC6 Health Risk Likely pathogenic —
RS115729513 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1157302392 TCTN3 Health Risk Pathogenic Inborn genetic diseases, Orofacial-digital syndrome IV
RS1157302803 CRPPA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS115730708 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1157311218 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1157312147 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1157335847 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1157340043 CDH3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS115735611 GIGYF2 Health Risk risk factor Parkinson disease 11, autosomal dominant
RS115735993 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCLO-related disorder
RS115736276 PRKCG Health Risk Conflicting classifications of pathogenicity —
RS1157393817 LPL Health Risk Likely pathogenic —
RS11574107 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS11574115 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS11574116 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, VDR-related disorder
RS11574117 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS1157413766 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1157417207 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS115742228 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS11574250 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS11574323 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1157436927 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS11574410 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Wiskott-Aldrich syndrome
RS115744476 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
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