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rs121908978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908978(A;A)
Make rs121908978(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119029287
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs121908978
ebirs121908978
HLIrs121908978
Exacrs121908978
Varsomers121908978
Maprs121908978
PheGenIrs121908978
hapmaprs121908978
1000 genomesrs121908978
hgdprs121908978
ensemblrs121908978
gopubmedrs121908978
geneviewrs121908978
scholarrs121908978
googlers121908978
pharmgkbrs121908978
gwascentralrs121908978
openSNPrs121908978
23andMers121908978
23andMe allrs121908978
SNP Nexus

SNPshotrs121908978
SNPdbers121908978
MSV3drs121908978
GWAS Ctlgrs121908978
Max Magnitude0
OMIM602671
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908978(A;A)
Alt rs121908978(A;A)
Reference rs121908978(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.118899997C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007345.3, RCV000059144.1,


[PMID 10026167] Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.