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 0.710 1.000 9 2006 2019
dbSNP: rs267606675
rs267606675
B3GLCT
1 1.000 0.160 13 31317679 missense variant G/A snv 0.700 0
dbSNP: rs767361165
rs767361165
B3GLCT
1 1.000 0.160 13 31247967 splice donor variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs80338850
rs80338850
B3GLCT
1 1.000 0.160 13 31247104 splice region variant G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs80338852
rs80338852
B3GLCT
3 0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06 0.700 0