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 0.700 0
dbSNP: rs201958741
rs201958741
GBE1
4 0.851 0.120 3 81577999 missense variant C/T snv 3.3E-05 4.9E-05 0.700 0
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 0
dbSNP: rs80338673
rs80338673
GBE1
4 0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs869320698
rs869320698
GBE1
1 1.000 3 81493813 intron variant CCACCACAC/ACCTGTCATGTAAAAAACA delins 0.700 0