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: rs1554112524
rs1554112524
ERGIC1 ; MIR10523
1 1.000 0.080 5 172914756 missense variant T/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1207534366
rs1207534366
LGI4
4 0.882 0.080 19 35134679 start lost A/C;G snv 0.700 0