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: rs375086983
rs375086983
NKX2-5
1 1.000 5 173232696 missense variant G/A;T snv 4.5E-05 0.700 1.000 2 2010 2011
dbSNP: rs387906775
rs387906775
NKX2-5
3 0.925 0.080 5 173234909 missense variant G/C snv 0.700 1.000 2 2010 2011