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rs869312886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312886(C;C)
Make rs869312886(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position83181808
GenePGM3
is asnp
is mentioned by
dbSNPrs869312886
dbSNP (classic)rs869312886
ClinGenrs869312886
ebirs869312886
HLIrs869312886
Exacrs869312886
Gnomadrs869312886
Varsomers869312886
LitVarrs869312886
Maprs869312886
PheGenIrs869312886
Biobankrs869312886
1000 genomesrs869312886
hgdprs869312886
ensemblrs869312886
geneviewrs869312886
scholarrs869312886
googlers869312886
pharmgkbrs869312886
gwascentralrs869312886
openSNPrs869312886
23andMers869312886
SNPshotrs869312886
SNPdbers869312886
MSV3drs869312886
GWAS Ctlgrs869312886
Max Magnitude0
ClinVar
Risk rs869312886(C;C)
Alt rs869312886(C;C)
Reference Rs869312886(G;G)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23
Reversed 1
HGVS NC_000006.11:g.83891527C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210409.2,