rs137852684, NKX2-5

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.
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
3 0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04 0.700 1.000 1 2006 2006
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04 0.010 1.000 1 2012 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04 0.010 1.000 1 2012 2012