Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356491
rs80356491
SLC37A4 ; TRAPPC4
C 0.700 CausalMutation CLINVAR Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. 10923042

2000
dbSNP: rs80356491
rs80356491
SLC37A4 ; TRAPPC4
C 0.700 CausalMutation CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254

1999
dbSNP: rs80356491
rs80356491
SLC37A4 ; TRAPPC4
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