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 0.700 1.000 6 1996 2015