rs1567705064, G6PC

N. diseases: 8
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.
Abdomen distended
CUI: C0000731
Disease: Abdomen distended
6 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Cushingoid facies
CUI: C0332601
Disease: Cushingoid facies
1 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Elevated gamma-glutamyltransferase activity
1 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Glycogen storage disease type Ia
CUI: C2919796
Disease: Glycogen storage disease type Ia
45 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Serum alkaline phosphatase raised
CUI: C1314665
Disease: Serum alkaline phosphatase raised
6 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0