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: rs6882776
rs6882776
NKX2-5
2 1.000 0.080 5 173237160 upstream gene variant G/A snv 0.34 0.800 1.000 2 2013 2018
dbSNP: rs104893904
rs104893904
NKX2-5
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2014 2014