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: rs144181978
rs144181978
DGUOK
1 1.000 2 73950603 missense variant T/A snv 1.4E-04 2.0E-04 0.800 1.000 1 2012 2012
dbSNP: rs762550967
rs762550967
DGUOK
1 1.000 2 73927040 stop gained G/A;T snv 2.5E-05; 4.1E-06 0.800 1.000 1 2012 2012
dbSNP: rs536746349
rs536746349
DGUOK
1 1.000 2 73950574 intron variant C/G snv 2.8E-05 0.700 0
dbSNP: rs748597500
rs748597500
DGUOK
3 0.882 2 73950732 splice region variant G/A snv 4.0E-05 4.9E-05 0.700 0
dbSNP: rs763615602
rs763615602
DGUOK
3 0.882 2 73927047 missense variant A/G snv 2.5E-05 3.5E-05 0.700 0
dbSNP: rs863223949
rs863223949
DGUOK
2 0.925 2 73957135 frameshift variant GA/- delins 8.0E-06 0.700 0
dbSNP: rs879255617
rs879255617
DGUOK
1 1.000 2 73938953 stop gained C/A snv 0.700 0