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: rs387906775
rs387906775
NKX2-5
3 0.925 0.080 5 173234909 missense variant G/C snv 0.700 0
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 0.700 0