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rs137854586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854586(C;C)
Make rs137854586(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37805020
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854586
ebirs137854586
HLIrs137854586
Exacrs137854586
Varsomers137854586
Maprs137854586
PheGenIrs137854586
hapmaprs137854586
1000 genomesrs137854586
hgdprs137854586
ensemblrs137854586
gopubmedrs137854586
geneviewrs137854586
scholarrs137854586
googlers137854586
pharmgkbrs137854586
gwascentralrs137854586
openSNPrs137854586
23andMers137854586
23andMe allrs137854586
SNP Nexus

SNPshotrs137854586
SNPdbers137854586
MSV3drs137854586
GWAS Ctlgrs137854586
Max Magnitude0
OMIM300481
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137854586(A,C;A,C)
Alt rs137854586(A,C;A,C)
Reference rs137854586(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.37664273G>A; NC_000023.10:g.37664273G>C
CLNSRC UniProtKB (variants) OMIM Allelic Variant
CLNACC RCV000059231.1, RCV000011668.9, RCV000059232.1,


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


[PMID 10914676] Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.