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: rs137852886
rs137852886
GBE1
3 0.925 0.080 3 81648876 missense variant A/G snv 4.4E-06 2.1E-05 0.800 1.000 4 1996 2015
dbSNP: rs137852887
rs137852887
GBE1
2 0.925 0.080 3 81646403 missense variant A/T snv 1.4E-05 0.800 1.000 3 1996 2004
dbSNP: rs137852889
rs137852889
GBE1
2 1.000 0.080 3 81537080 missense variant T/C snv 0.800 1.000 3 1996 2004
dbSNP: rs80338671
rs80338671
GBE1
5 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.710 1.000 8 1996 2015
dbSNP: rs137852888
rs137852888
GBE1
3 0.882 0.120 3 81577973 stop gained G/A;C snv 3.7E-05 5.6E-05 0.710 1.000 1 2016 2016
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 10 1998 2017
dbSNP: rs766935302
rs766935302
GBE1
2 0.925 0.080 3 81535220 stop gained G/A;C snv 2.8E-05 0.700 1.000 4 2004 2009
dbSNP: rs137852891
rs137852891
GBE1
1 1.000 0.080 3 81535246 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 3 1996 2004
dbSNP: rs886058900
rs886058900
GBE1
1 1.000 0.080 3 81577939 missense variant T/C snv 4.3E-06 7.0E-06 0.700 1.000 3 2008 2015
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: rs137852890
rs137852890
GBE1
2 0.925 0.120 3 81536940 stop gained C/A;T snv 0.700 0
dbSNP: rs137852894
rs137852894
GBE1
2 0.925 0.120 3 81537071 stop gained C/T snv 1.1E-05 0.700 0
dbSNP: rs1553690406
rs1553690406
GBE1
1 1.000 0.080 3 81670852 stop gained C/A snv 0.700 0
dbSNP: rs1559637815
rs1559637815
GBE1
1 1.000 0.080 3 81537034 stop gained G/T snv 0.700 0
dbSNP: rs397515343
rs397515343
GBE1
2 1.000 0.080 3 81761374 splice donor variant C/T snv 0.700 0
dbSNP: rs397515344
rs397515344
GBE1
2 0.925 0.120 3 81648851 splice region variant C/G snv 0.700 0
dbSNP: rs763016962
rs763016962
GBE1
1 1.000 0.080 3 81594024 splice acceptor variant C/A snv 1.4E-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
dbSNP: rs80338673
rs80338673
GBE1
4 0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05 0.700 0