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rs137854589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854589(C;C)
Make rs137854589(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37799011
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854589
ebirs137854589
HLIrs137854589
Exacrs137854589
Varsomers137854589
Maprs137854589
PheGenIrs137854589
hapmaprs137854589
1000 genomesrs137854589
hgdprs137854589
ensemblrs137854589
gopubmedrs137854589
geneviewrs137854589
scholarrs137854589
googlers137854589
pharmgkbrs137854589
gwascentralrs137854589
openSNPrs137854589
23andMers137854589
23andMe allrs137854589
SNP Nexus

SNPshotrs137854589
SNPdbers137854589
MSV3drs137854589
GWAS Ctlgrs137854589
Max Magnitude0
OMIM300481
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137854589(A,C;A,C)
Alt rs137854589(A,C;A,C)
Reference rs137854589(G;G)
Significance Pathogenic
Disease not provided Granulomatous disease
Variation info
Gene CYBB
CLNDBN not provided Granulomatous disease, chronic, X-linked, variant
Reversed 0
HGVS NC_000023.10:g.37658264G>A; NC_000023.10:g.37658264G>C
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059277.1, RCV000011671.2, RCV000059278.1,


[PMID 1710153] Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.


[PMID 9888386] Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.