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: rs886041001
rs886041001
ERF
1 1.000 19 42249934 missense variant T/C snv 0.810 1.000 1 2019 2019
dbSNP: rs587777006
rs587777006
ERF
3 0.882 0.080 19 42249565 stop gained G/A;C snv 4.0E-06 0.700 0