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: rs1801175
rs1801175
G6PC
8 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.710 1.000 3 1993 2004
dbSNP: rs1800312
rs1800312
GAA
3 0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04 0.700 1.000 12 1994 2017
dbSNP: rs386834236
rs386834236
GAA
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 11 1994 2015
dbSNP: rs747610090
rs747610090
GAA
2 1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05 0.700 1.000 10 2006 2017
dbSNP: rs12118058
rs12118058
AGL
2 1.000 0.080 1 99916709 stop gained C/G;T snv 3.6E-05 1.0E-04 0.700 1.000 4 1997 2016
dbSNP: rs767095759
rs767095759
PFKM
2 1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05 0.700 1.000 3 1994 1997
dbSNP: rs80356491
rs80356491
SLC37A4 ; TRAPPC4
3 0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04 0.700 1.000 3 1998 2000
dbSNP: rs121918419
rs121918419
GYS2
2 1.000 0.120 12 21568952 stop gained G/A snv 3.8E-04 1.3E-04 0.700 1.000 2 1998 2010
dbSNP: rs104894571
rs104894571
G6PC
3 0.925 0.080 17 42909353 missense variant T/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs121965021
rs121965021
IDUA
7 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs144254880
rs144254880
SPC25 ; G6PC2
1 2 168902462 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs193302879
rs193302879
SLC37A4
2 1.000 0.080 11 119027811 missense variant G/A snv 8.3E-06 0.010 1.000 1 2005 2005
dbSNP: rs193302887
rs193302887
SLC37A4
2 1.000 0.080 11 119029300 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs750186480
rs750186480
PHKA2
1 X 18925748 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs80356482
rs80356482
G6PC
5 0.851 0.160 17 42909418 missense variant G/A;C snv 1.6E-05; 5.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs80356483
rs80356483
G6PC
3 0.925 0.080 17 42911161 missense variant G/T snv 8.0E-06 2.1E-05 0.010 1.000 1 1999 1999