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: rs137852683
rs137852683
NKX2-5
2 0.925 5 173232648 missense variant T/C snv 0.700 0
dbSNP: rs137852686
rs137852686
NKX2-5
4 0.851 0.080 5 173232997 missense variant T/C snv 0.700 0