Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852684
rs137852684
NKX2-5
3 0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04 0.700 1.000 1 2006 2006
dbSNP: rs137852685
rs137852685
NKX2-5
2 0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06 0.800 1.000 1 2006 2006
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.800 0