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rs137854585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854585(A;A)
Make rs137854585(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37805098
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854585
ebirs137854585
HLIrs137854585
Exacrs137854585
Varsomers137854585
Maprs137854585
PheGenIrs137854585
hapmaprs137854585
1000 genomesrs137854585
hgdprs137854585
ensemblrs137854585
gopubmedrs137854585
geneviewrs137854585
scholarrs137854585
googlers137854585
pharmgkbrs137854585
gwascentralrs137854585
openSNPrs137854585
23andMers137854585
23andMe allrs137854585
SNP Nexus

SNPshotrs137854585
SNPdbers137854585
MSV3drs137854585
GWAS Ctlgrs137854585
Max Magnitude0
OMIM300481
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854585(A,T;A,T)
Alt rs137854585(A,T;A,T)
Reference rs137854585(C;C)
Significance Pathogenic
Disease Granulomatous disease not provided
Variation info
Gene CYBB
CLNDBN Granulomatous disease, chronic, X-linked, variant not provided
Reversed 0
HGVS NC_000023.10:g.37664351C>A; NC_000023.10:g.37664351C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011667.2, RCV000059237.1, RCV000059238.1,


[PMID 2556453OA-icon.png] A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.


[PMID 9585602OA-icon.png] X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.