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rs267608260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608260(C;C)
Make rs267608260(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position83188755
GenePGM3
is asnp
is mentioned by
dbSNPrs267608260
ebirs267608260
HLIrs267608260
Exacrs267608260
Varsomers267608260
Maprs267608260
PheGenIrs267608260
hapmaprs267608260
1000 genomesrs267608260
hgdprs267608260
ensemblrs267608260
gopubmedrs267608260
geneviewrs267608260
scholarrs267608260
googlers267608260
pharmgkbrs267608260
gwascentralrs267608260
openSNPrs267608260
23andMers267608260
23andMe allrs267608260
SNP Nexus

SNPshotrs267608260
SNPdbers267608260
MSV3drs267608260
GWAS Ctlgrs267608260
Max Magnitude0
ClinVar
Risk rs267608260(C;C)
Alt rs267608260(C;C)
Reference rs267608260(T;T)
Significance Pathogenic
Disease Immunodeficiency 23 Hyper-IgE syndrome
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23 Hyper-IgE syndrome
Reversed 1
HGVS NC_000006.11:g.83898474A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000119832.4, RCV000144537.1,