rs80356491

minus

Geno	Mag	Summary
(-;-)	5	glycogen storage disease type 1b
(-;CT)	3	carrier for glycogen storage disease type 1b allele
(CT;CT)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

119025271

Gene

SLC37A4

is a	snp
is	mentioned by
dbSNP	rs80356491
dbSNP (classic)	rs80356491
ClinGen	rs80356491
ebi	rs80356491
HLI	rs80356491
Exac	rs80356491
Gnomad	rs80356491
Varsome	rs80356491
LitVar	rs80356491
Map	rs80356491
PheGenI	rs80356491
Biobank	rs80356491
1000 genomes	rs80356491
hgdp	rs80356491
ensembl	rs80356491
geneview	rs80356491
scholar	rs80356491
google	rs80356491
pharmgkb	rs80356491
gwascentral	rs80356491
openSNP	rs80356491
23andMe	rs80356491
SNPshot	rs80356491
SNPdbe	rs80356491
MSV3d	rs80356491
GWAS Ctlg	rs80356491

Max Magnitude

5

rs80356491, also known as 1042_1043delCT or 1211-1212delCT, is a SNP in the solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 gene.

This mutation is reported by 23andMe as accounting for approximately 30% of glycogen storage disease type 1b-causing mutations in people of European ancestry; 23andMe uses the term i5012880 for this SNP.

OMIM	602671
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs80356491(-;-)
Alt	Rs80356491(-;-)
Reference	Rs80356491(CT;CT)
Significance	Pathogenic
Disease	Glucose-6-phosphate transport defect Phosphate transport defect
Variation	info
Gene	SLC37A4
CLNDBN	Glucose-6-phosphate transport defect Phosphate transport defect
Reversed	1
HGVS	NC_000011.9:g.118895981_118895982delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007336.5, RCV000007337.3,

[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.

[PMID 10323254] Molecular diagnosis of type 1c glycogen storage disease.