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rs137854593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854593(A;G)
Make rs137854593(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37809604
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854593
ebirs137854593
HLIrs137854593
Exacrs137854593
Varsomers137854593
Maprs137854593
PheGenIrs137854593
hapmaprs137854593
1000 genomesrs137854593
hgdprs137854593
ensemblrs137854593
gopubmedrs137854593
geneviewrs137854593
scholarrs137854593
googlers137854593
pharmgkbrs137854593
gwascentralrs137854593
openSNPrs137854593
23andMers137854593
23andMe allrs137854593
SNP Nexus

SNPshotrs137854593
SNPdbers137854593
MSV3drs137854593
GWAS Ctlgrs137854593
Merged fromRs28935181
Max Magnitude0
OMIM300481
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137854593(G;G)
Alt rs137854593(G;G)
Reference rs137854593(A;A)
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.37668857A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011678.2, RCV000059242.1,


[PMID 8182143OA-icon.png] A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.