Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801175
rs1801175
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 1.000 23 1993 2015
dbSNP: rs1801175
rs1801175
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.710 1.000 2 1993 2004
dbSNP: rs1801175
rs1801175
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.700 0
dbSNP: rs1801175
rs1801175
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 0