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rs587777563

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777563(C;G)
Make rs587777563(G;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position83181892
GenePGM3
is asnp
is mentioned by
dbSNPrs587777563
dbSNP (classic)rs587777563
ClinGenrs587777563
ebirs587777563
HLIrs587777563
Exacrs587777563
Gnomadrs587777563
Varsomers587777563
LitVarrs587777563
Maprs587777563
PheGenIrs587777563
Biobankrs587777563
1000 genomesrs587777563
hgdprs587777563
ensemblrs587777563
geneviewrs587777563
scholarrs587777563
googlers587777563
pharmgkbrs587777563
gwascentralrs587777563
openSNPrs587777563
23andMers587777563
SNPshotrs587777563
SNPdbers587777563
MSV3drs587777563
GWAS Ctlgrs587777563
Max Magnitude0
ClinVar
Risk rs587777563(G;G)
Alt rs587777563(G;G)
Reference Rs587777563(C;C)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23
Reversed 0
HGVS NC_000006.12:g.83181892C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128845.3,