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: rs137853834
rs137853834
OCRL
1 1.000 0.200 X 129562657 missense variant T/G snv 0.700 1.000 10 1997 2011