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: rs121908293
rs121908293
ALG8
1 1.000 0.080 11 78127393 missense variant T/A;C;G snv 2.0E-05; 8.0E-06; 1.2E-05 0.800 1.000 1 2004 2004
dbSNP: rs121908294
rs121908294
ALG8
1 1.000 0.080 11 78112724 missense variant C/A;T snv 4.0E-06 0.800 1.000 1 2004 2004
dbSNP: rs139832787
rs139832787
ALG8
1 1.000 0.080 11 78121064 splice donor variant C/T snv 1.7E-04 5.1E-04 0.700 0
dbSNP: rs1470636347
rs1470636347
ALG8
1 1.000 0.080 11 78114262 splice region variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1555073109
rs1555073109
ALG8
1 1.000 0.080 11 78127438 splice acceptor variant T/C snv 0.700 0
dbSNP: rs387906277
rs387906277
ALG8
1 1.000 0.080 11 78121130 frameshift variant G/- del 0.700 0
dbSNP: rs753631154
rs753631154
ALG8
1 1.000 0.080 11 78121146 frameshift variant -/T delins 2.0E-05; 8.0E-06 0.700 0
dbSNP: rs794727931
rs794727931
ALG8
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0