Source: CURATED

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: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 1 2001 2001
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0002871
Disease: Anemia
Anemia 		0.700 0