rs373345919, G6PC

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glycogen storage disease type Ia
CUI: C2919796
Disease: Glycogen storage disease type Ia
45 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.710 1.000 8 1999 2016
Convulsions
CUI: C4048158
Disease: Convulsions
4 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000
Glycogen Storage Disease Type I
CUI: C0017920
Disease: Glycogen Storage Disease Type I
33 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000