Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356491

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome11
Position119025271
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs80356491
ebirs80356491
HLIrs80356491
Exacrs80356491
Varsomers80356491
Maprs80356491
PheGenIrs80356491
hapmaprs80356491
1000 genomesrs80356491
hgdprs80356491
ensemblrs80356491
gopubmedrs80356491
geneviewrs80356491
scholarrs80356491
googlers80356491
pharmgkbrs80356491
gwascentralrs80356491
openSNPrs80356491
23andMers80356491
23andMe allrs80356491
SNP Nexus

SNPshotrs80356491
SNPdbers80356491
MSV3drs80356491
GWAS Ctlgrs80356491
Max Magnitude5

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.

OMIM602671
Desc
Variant0006
Relatedalso
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 RCV000007336.4, RCV000007337.3,


[PMID 9758626OA-icon.png] 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.