rs397516908, NKX2-5

N. diseases: 1
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 Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999