rs864321650, 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.
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 5 173234902 missense variant G/A;C snv 0.700 0
Cardiac defects
CUI: C0741916
Disease: Cardiac defects
2 5 173234902 missense variant G/A;C snv 0.010 1.000 1 2009 2009
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 5 173234902 missense variant G/A;C snv 0.010 1.000 1 2009 2009