Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs1801175
G6PC
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 4
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 4
rs80356491
SLC37A4 ; TRAPPC4
0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04 3
rs12118058
AGL
1.000 0.080 1 99916709 stop gained C/G;T snv 3.6E-05 1.0E-04 2
rs1800312
GAA
0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04 2
rs747610090
GAA
1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05 2
rs121918419
GYS2
1.000 0.120 12 21568952 stop gained G/A snv 3.8E-04 1.3E-04 2
rs767095759
PFKM
1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05 2
rs104894571
G6PC
0.925 0.080 17 42909353 missense variant T/C;G snv 1
rs80356482
G6PC
0.851 0.160 17 42909418 missense variant G/A;C snv 1.6E-05; 5.2E-05 1
rs80356483
G6PC
0.925 0.080 17 42911161 missense variant G/T snv 8.0E-06 2.1E-05 1
rs193302887
SLC37A4
1.000 0.080 11 119029300 missense variant A/G snv 1