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: rs80338671
rs80338671
GBE1
5 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.720 1.000 2 1998 2015
dbSNP: rs201958741
rs201958741
GBE1
4 0.851 0.120 3 81577999 missense variant C/T snv 3.3E-05 4.9E-05 0.710 1.000 1 2003 2003
dbSNP: rs137852893
rs137852893
GBE1
2 0.925 0.120 3 81642989 missense variant G/A snv 1.3E-05 0.700 0
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 0
dbSNP: rs369574719
rs369574719
GBE1
1 1.000 0.120 3 81642988 missense variant C/T snv 3.0E-05 5.6E-05 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
dbSNP: rs752711257
rs752711257
GBE1
1 1.000 0.120 3 81586190 missense variant C/G;T snv 4.3E-06 0.010 1.000 1 2014 2014