rs1801175, G6PC

N. diseases: 4
Source: CLINVAR ×
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
CUI: C0017919
Disease: Glycogen Storage Disease
8 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.710 1.000 2 1993 2004
Glycogen storage disease type Ia
CUI: C2919796
Disease: Glycogen storage disease type Ia
44 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.700 1.000 23 1993 2015
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
15 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.700 0