rs376621016, TBX5

N. diseases: 4
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 0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
Tricuspid Atresia
CUI: C0243002
Disease: Tricuspid Atresia
1 0.851 0.080 12 114399553 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016