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rs137854596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854596(C;G)
Make rs137854596(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37803890
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854596
ebirs137854596
HLIrs137854596
Exacrs137854596
Varsomers137854596
Maprs137854596
PheGenIrs137854596
hapmaprs137854596
1000 genomesrs137854596
hgdprs137854596
ensemblrs137854596
gopubmedrs137854596
geneviewrs137854596
scholarrs137854596
googlers137854596
pharmgkbrs137854596
gwascentralrs137854596
openSNPrs137854596
23andMers137854596
23andMe allrs137854596
SNP Nexus

SNPshotrs137854596
SNPdbers137854596
MSV3drs137854596
GWAS Ctlgrs137854596
Max Magnitude0
OMIM300481
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137854596(G;G)
Alt rs137854596(G;G)
Reference rs137854596(C;C)
Significance Pathogenic
Disease Chronic granulomatous disease not provided
Variation info
Gene CYBB
CLNDBN Chronic granulomatous disease, X-linked not provided
Reversed 0
HGVS NC_000023.10:g.37663143C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011674.9, RCV000059280.1,


[PMID 11997083] Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.