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: rs786203458
rs786203458
CHEK2
2 1.000 0.080 22 28734445 frameshift variant A/- del 0.700 1.000 1 2016 2016