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: rs77130927
rs77130927
CHEK2
3 0.882 0.120 22 28725031 missense variant G/A snv 1.0E-03 5.5E-04 0.700 1.000 5 2008 2015