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: rs1057516045
rs1057516045
LBR
8 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 1.000 1 2016 2016