Source: UNIPROT ×
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: rs364897
rs364897
GBA
2 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.800 1.000 3 1996 2014
dbSNP: rs121908310
rs121908310
GBA
2 0.925 0.120 1 155235760 missense variant C/A;G snv 4.0E-06 0.700 1.000 3 1996 2014
dbSNP: rs78016673
rs78016673
GBA
1 1.000 0.120 1 155235017 missense variant G/A snv 0.700 0