rs80356490

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80356490(G;T)

Make rs80356490(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

119025299

Gene

SLC37A4

is a	snp
is	mentioned by
dbSNP	rs80356490
dbSNP (classic)	rs80356490
ClinGen	rs80356490
ebi	rs80356490
HLI	rs80356490
Exac	rs80356490
Gnomad	rs80356490
Varsome	rs80356490
LitVar	rs80356490
Map	rs80356490
PheGenI	rs80356490
Biobank	rs80356490
1000 genomes	rs80356490
hgdp	rs80356490
ensembl	rs80356490
geneview	rs80356490
scholar	rs80356490
google	rs80356490
pharmgkb	rs80356490
gwascentral	rs80356490
openSNP	rs80356490
23andMe	rs80356490
SNPshot	rs80356490
SNPdbe	rs80356490
MSV3d	rs80356490
GWAS Ctlg	rs80356490

Max Magnitude

0

OMIM	602671
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356490(T;T)
Alt	rs80356490(T;T)
Reference	Rs80356490(G;G)
Significance	Pathogenic
Disease	Glucose-6-phosphate transport defect not provided
Variation	info
Gene	SLC37A4
CLNDBN	Glucose-6-phosphate transport defect not provided
Reversed	1
HGVS	NC_000011.9:g.118896009C>A
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000007330.4, RCV000059116.3,

[PMID 9428641] Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

[PMID 10482962] The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

[PMID 10923042] 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.

[PMID 11949931] Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

[PMID 9758626 ] A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.