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: rs137852890
rs137852890
GBE1
2 0.925 0.120 3 81536940 stop gained C/A;T snv 0.700 0
dbSNP: rs137852892
rs137852892
GBE1
1 1.000 0.120 3 81646466 missense variant C/G snv 2.1E-05 2.8E-05 0.700 0
dbSNP: rs137852893
rs137852893
GBE1
2 0.925 0.120 3 81642989 missense variant G/A snv 1.3E-05 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: rs397515342
rs397515342
GBE1
1 1.000 0.120 3 81642991 splice acceptor 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