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rs137854590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854590(A;A)
Make rs137854590(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37793793
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854590
ebirs137854590
HLIrs137854590
Exacrs137854590
Varsomers137854590
Maprs137854590
PheGenIrs137854590
hapmaprs137854590
1000 genomesrs137854590
hgdprs137854590
ensemblrs137854590
gopubmedrs137854590
geneviewrs137854590
scholarrs137854590
googlers137854590
pharmgkbrs137854590
gwascentralrs137854590
openSNPrs137854590
23andMers137854590
23andMe allrs137854590
SNP Nexus

SNPshotrs137854590
SNPdbers137854590
MSV3drs137854590
GWAS Ctlgrs137854590
Max Magnitude0
OMIM300481
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854590(A;A)
Alt rs137854590(A;A)
Reference rs137854590(G;G)
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.37653046G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011672.9, RCV000059259.1,


[PMID 1710153] Point mutations in the beta-subunit of cytochrome b558 leading to 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.