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rs121908976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908976(A;A)
Make rs121908976(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119028288
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs121908976
dbSNP (classic)rs121908976
ClinGenrs121908976
ebirs121908976
HLIrs121908976
Exacrs121908976
Gnomadrs121908976
Varsomers121908976
LitVarrs121908976
Maprs121908976
PheGenIrs121908976
Biobankrs121908976
1000 genomesrs121908976
hgdprs121908976
ensemblrs121908976
geneviewrs121908976
scholarrs121908976
googlers121908976
pharmgkbrs121908976
gwascentralrs121908976
openSNPrs121908976
23andMers121908976
SNPshotrs121908976
SNPdbers121908976
MSV3drs121908976
GWAS Ctlgrs121908976
Max Magnitude0
OMIM602671
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908976(A;A)
Alt rs121908976(A;A)
Reference Rs121908976(G;G)
Significance Pathogenic
Disease Phosphate transport defect Glucose-6-phosphate transport defect
Variation info
Gene SLC37A4
CLNDBN Phosphate transport defect Glucose-6-phosphate transport defect
Reversed 1
HGVS NC_000011.9:g.118898998C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007339.3, RCV000169480.1,