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: rs1555913337
rs1555913337
BCOR
1 1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 0.700 0