Gene: B3GLCT ×
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: rs80338851
rs80338851
B3GLCT
3 0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04 0.010 1.000 1 2019 2019