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: rs137852889
rs137852889
GBE1
2 1.000 0.080 3 81537080 missense variant T/C snv 0.700 0
dbSNP: rs397515343
rs397515343
GBE1
2 1.000 0.080 3 81761374 splice donor variant C/T snv 0.700 0