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: rs104893633
rs104893633
DGUOK ; DGUOK-AS1
3 0.925 0.080 2 73958201 missense variant G/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs28941785
rs28941785
CTH
2 1.000 0.080 1 70415987 missense variant C/A;T snv 4.0E-06; 6.5E-03 0.010 1.000 1 2010 2010