rs6489957, 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.
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 0.010 1.000 1 2019 2019
Heart Septal Defects
CUI: C0018816
Disease: Heart Septal Defects
12 0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 0.010 1.000 1 2019 2019
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 0.010 1.000 1 2019 2019
Patent ductus arteriosus - persisting type
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
10 0.925 0.120 12 114355808 synonymous variant G/A snv 4.4E-03 1.7E-02 0.010 1.000 1 2019 2019