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rs267608261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608261(G;T)
Make rs267608261(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position83170340
GeneDOPEY1, PGM3
is asnp
is mentioned by
dbSNPrs267608261
dbSNP (classic)rs267608261
ClinGenrs267608261
ebirs267608261
HLIrs267608261
Exacrs267608261
Gnomadrs267608261
Varsomers267608261
LitVarrs267608261
Maprs267608261
PheGenIrs267608261
Biobankrs267608261
1000 genomesrs267608261
hgdprs267608261
ensemblrs267608261
geneviewrs267608261
scholarrs267608261
googlers267608261
pharmgkbrs267608261
gwascentralrs267608261
openSNPrs267608261
23andMers267608261
SNPshotrs267608261
SNPdbers267608261
MSV3drs267608261
GWAS Ctlgrs267608261
Max Magnitude0
ClinVar
Risk rs267608261(T;T)
Alt rs267608261(T;T)
Reference Rs267608261(G;G)
Significance Pathogenic
Disease Immunodeficiency 23 Hyper-IgE syndrome
Variation info
Gene DOPEY1 PGM3
CLNDBN Immunodeficiency 23 Hyper-IgE syndrome
Reversed 1
HGVS NC_000006.11:g.83880059C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000119833.4, RCV000144536.1,