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
RS2130229956 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130231971 PUF60 Health Risk Pathogenic Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
RS2130242101 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130242336 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130244708 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130246296 PUF60 Health Risk Pathogenic —
RS2130247180 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130253034 PUF60 Health Risk Likely pathogenic —
RS2130256444 PUF60 Health Risk Likely pathogenic —
RS2130256693 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130257405 PUF60 Health Risk Conflicting classifications of pathogenicity 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130258214 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS2130266157 CYP11B1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS2130266809 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130266841 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130267209 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130273191 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130273520 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130274854 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130275613 CYP11B1 Health Risk Pathogenic —
RS2130276607 CYP11B1 Health Risk Pathogenic —
RS2130277148 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS2130282582 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130282820 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130283448 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130283793 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130284286 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130284409 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130284737 CYP11B1 Health Risk Likely pathogenic —
RS2130284894 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130306151 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130306240 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130306367 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2130307055 GATA4 Health Risk Pathogenic Atrial septal defect 2, Ventricular septal defect 1
RS2130313276 GATA4 Health Risk Pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS2130313407 GATA4 Health Risk Likely pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS2130317561 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130322156 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130322576 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2130324802 CYP11B2 Health Risk Pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS2130325496 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS2130326488 CYP11B2 Health Risk Pathogenic —
RS2130326509 CYP11B2 Health Risk Pathogenic —
RS2130328775 CYP11B2 Health Risk Pathogenic —
RS2130329063 CYP11B2 Health Risk Likely pathogenic —
RS2130330223 CYP11B2 Health Risk Likely pathogenic —
RS2130330589 CYP11B2 Health Risk Pathogenic —
RS2130330708 CYP11B2 Health Risk Pathogenic —
RS2130330767 CYP11B2 Health Risk Pathogenic —
RS2130330823 CYP11B2 Health Risk Pathogenic —
RS2130334875 CYP11B2 Health Risk Likely pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS2130335040 CYP11B2 Health Risk Pathogenic —
RS2130336602 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone 18-monooxygenase deficiency
RS2130336971 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS2130338262 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Testicular anomalies with or without congenital heart disease
RS2130344386 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130344836 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130363709 SMARCA2 Health Risk Likely pathogenic —
RS2130376964 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130377037 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130415051 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130415100 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130417119 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130422216 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130426690 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130436818 OTUD6B Health Risk Pathogenic —
RS2130439413 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130441377 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130444163 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130444402 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2130444603 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130444636 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2130444978 TRPS1 Health Risk Pathogenic/Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2130445285 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130445786 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2130445833 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130445981 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130446714 OTUD6B Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS213045 ECE1 Health Risk risk factor Hypertension, essential
RS213046 ECE1 Health Risk risk factor Hypertension, essential
RS2130460427 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS2130463115 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2130464312 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2130464626 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2130469189 RAD21 Health Risk Likely pathogenic See cases, See cases
RS2130469261 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS2130469632 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2130469991 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2130470364 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130474729 SMARCA2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2130478653 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS2130479407 RAD21 Health Risk Likely pathogenic De Lange syndrome, De Lange syndrome
RS2130479466 RAD21 Health Risk Conflicting classifications of pathogenicity RAD21-related disorder, Inborn genetic diseases
RS2130480213 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130480535 PUF60 Health Risk Pathogenic —
RS2130480714 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2130485352 RAD21 Health Risk Pathogenic —
RS2130486498 SMARCA2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2130486548 SMARCA2 Health Risk Pathogenic —
RS2130489877 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
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