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
0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I
0.810 1.000 14 1990 2014
dbSNP: rs1801175
rs1801175
0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 19 1990 2017
dbSNP: rs1801175
rs1801175
0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.700 1 2015 2015
dbSNP: rs1801175
rs1801175
0.821 0.143 17 42903947 missense variant C/T snp 5.7E-04 2.2E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015