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rs121908980

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908980(A;A)
Make rs121908980(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119025298
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs121908980
ebirs121908980
HLIrs121908980
Exacrs121908980
Varsomers121908980
Maprs121908980
PheGenIrs121908980
hapmaprs121908980
1000 genomesrs121908980
hgdprs121908980
ensemblrs121908980
gopubmedrs121908980
geneviewrs121908980
scholarrs121908980
googlers121908980
pharmgkbrs121908980
gwascentralrs121908980
openSNPrs121908980
23andMers121908980
23andMe allrs121908980
SNP Nexus

SNPshotrs121908980
SNPdbers121908980
MSV3drs121908980
GWAS Ctlgrs121908980
Max Magnitude0
OMIM602671
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908980(A;A)
Alt rs121908980(A;A)
Reference rs121908980(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.118896008C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007347.3, RCV000059117.1,


[PMID 10931421] Glycogen storage disease type Ib without neutropenia.