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rs121908977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTG;GTG) 0 common in clinvar
Make rs121908977(-;-)
Make rs121908977(-;GTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position119027016
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs121908977
dbSNP (classic)rs121908977
ClinGenrs121908977
ebirs121908977
HLIrs121908977
Exacrs121908977
Gnomadrs121908977
Varsomers121908977
LitVarrs121908977
Maprs121908977
PheGenIrs121908977
Biobankrs121908977
1000 genomesrs121908977
hgdprs121908977
ensemblrs121908977
geneviewrs121908977
scholarrs121908977
googlers121908977
pharmgkbrs121908977
gwascentralrs121908977
openSNPrs121908977
23andMers121908977
SNPshotrs121908977
SNPdbers121908977
MSV3drs121908977
GWAS Ctlgrs121908977
Max Magnitude0
OMIM602671
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908977(-;-)
Alt rs121908977(-;-)
Reference Rs121908977(GTG;GTG)
Significance Pathogenic
Disease Glucose-6-phosphate transport defect
Variation info
Gene SLC37A4
CLNDBN Glucose-6-phosphate transport defect
Reversed 1
HGVS NC_000011.9:g.118897726_118897728delCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007342.3,