rs749275495, TBX1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ATRIOVENTRICULAR CANAL DEFECT
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
14 0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018
Situs ambiguus
CUI: C0266642
Disease: Situs ambiguus
9 0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018