Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908980
rs121908980
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908975
rs121908975
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908979
rs121908979
A 0.700 CausalMutation CLINVAR

dbSNP: rs1459811938
rs1459811938
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555190559
rs1555190559
C 0.700 GeneticVariation CLINVAR

dbSNP: rs782202675
rs782202675
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908980
rs121908980
0.800 GeneticVariation UNIPROT Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641

1997

dbSNP: rs80356490
rs80356490
0.800 GeneticVariation UNIPROT Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641

1997

dbSNP: rs193302901
rs193302901
0.700 GeneticVariation UNIPROT Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641

1997

dbSNP: rs80356492
rs80356492
0.700 GeneticVariation UNIPROT Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641

1997

dbSNP: rs121908980
rs121908980
0.800 GeneticVariation UNIPROT Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154

1998

dbSNP: rs121908980
rs121908980
0.800 GeneticVariation UNIPROT Structure and mutation analysis of the glycogen storage disease type 1b gene. 9781688

1998

dbSNP: rs121908980
rs121908980
0.800 GeneticVariation UNIPROT Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. 9856496

1998

dbSNP: rs121908980
rs121908980
0.800 GeneticVariation UNIPROT A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998

dbSNP: rs80356490
rs80356490
0.800 GeneticVariation UNIPROT Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154

1998

dbSNP: rs80356490
rs80356490
0.800 GeneticVariation UNIPROT Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. 9856496

1998

dbSNP: rs80356490
rs80356490
0.800 GeneticVariation UNIPROT Structure and mutation analysis of the glycogen storage disease type 1b gene. 9781688

1998

dbSNP: rs80356490
rs80356490
0.800 GeneticVariation UNIPROT A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998

dbSNP: rs80356490
rs80356490
A 0.800 CausalMutation CLINVAR A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998

dbSNP: rs193302901
rs193302901
0.700 GeneticVariation UNIPROT Structure and mutation analysis of the glycogen storage disease type 1b gene. 9781688

1998

dbSNP: rs193302901
rs193302901
0.700 GeneticVariation UNIPROT Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. 9856496

1998

dbSNP: rs193302901
rs193302901
0.700 GeneticVariation UNIPROT Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154

1998

dbSNP: rs193302901
rs193302901
0.700 GeneticVariation UNIPROT A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998

dbSNP: rs782630676
rs782630676
G 0.700 CausalMutation CLINVAR A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998

dbSNP: rs80356491
rs80356491
C 0.700 CausalMutation CLINVAR A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998