Gene: NKX2-5 ×
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: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2018 2018
dbSNP: rs387906775
rs387906775
NKX2-5
3 0.925 0.080 5 173234909 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs387906776
rs387906776
NKX2-5
3 1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs703752
rs703752
NKX2-5
1 5 173232508 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs866024579
rs866024579
NKX2-5
1 5 173232819 missense variant C/T snv 0.010 < 0.001 1 2010 2010