Gene: GBE1 ×
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: rs192044702
rs192044702
GBE1
3 0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04 0.700 1.000 7 1998 2016
dbSNP: rs80338671
rs80338671
GBE1
5 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.700 1.000 6 1996 2015
dbSNP: rs766935302
rs766935302
GBE1
2 0.925 0.080 3 81535220 stop gained G/A;C snv 2.8E-05 0.700 1.000 3 2004 2007
dbSNP: rs1057517315
rs1057517315
GBE1
2 0.925 0.080 3 81705469 frameshift variant T/- delins 0.700 1.000 2 2003 2012
dbSNP: rs201958741
rs201958741
GBE1
4 0.851 0.120 3 81577999 missense variant C/T snv 3.3E-05 4.9E-05 0.700 1.000 2 2000 2014
dbSNP: rs137852887
rs137852887
GBE1
2 0.925 0.080 3 81646403 missense variant A/T snv 1.4E-05 0.700 0
dbSNP: rs137852888
rs137852888
GBE1
3 0.882 0.120 3 81577973 stop gained G/A;C snv 3.7E-05 5.6E-05 0.700 0
dbSNP: rs80338672
rs80338672
GBE1
2 0.925 0.080 3 81578000 missense variant G/A snv 3.7E-05 7.0E-06 0.700 0