Gene: GBA ×
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: rs76539814
rs76539814
GBA
2 0.925 0.120 1 155236384 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.700 0
dbSNP: rs78973108
rs78973108
GBA
8 0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs79653797
rs79653797
GBA
4 0.851 0.120 1 155238629 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs79696831
rs79696831
GBA
1 1.000 0.120 1 155237369 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs80356769
rs80356769
GBA
8 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs80356771
rs80356771
GBA
8 0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs80356772
rs80356772
GBA
9 0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.700 0