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: rs72554028
rs72554028
NKX2-5
2 0.925 0.120 5 173233001 missense variant C/G;T snv 7.5E-03 0.700 1.000 2 2014 2014