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rs121912479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912479(G;T)
Make rs121912479(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position18407267
GeneLDHA
is asnp
is mentioned by
dbSNPrs121912479
dbSNP (classic)rs121912479
ClinGenrs121912479
ebirs121912479
HLIrs121912479
Exacrs121912479
Gnomadrs121912479
Varsomers121912479
LitVarrs121912479
Maprs121912479
PheGenIrs121912479
Biobankrs121912479
1000 genomesrs121912479
hgdprs121912479
ensemblrs121912479
geneviewrs121912479
scholarrs121912479
googlers121912479
pharmgkbrs121912479
gwascentralrs121912479
openSNPrs121912479
23andMers121912479
SNPshotrs121912479
SNPdbers121912479
MSV3drs121912479
GWAS Ctlgrs121912479
Max Magnitude0
OMIM150000
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912479(T;T)
Alt rs121912479(T;T)
Reference Rs121912479(G;G)
Significance Pathogenic
Disease Glycogen storage disease XI
Variation info
Gene LDHA
CLNDBN Glycogen storage disease XI
Reversed 0
HGVS NC_000011.9:g.18428814G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015668.22,