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rs137854594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854594(C;T)
Make rs137854594(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37792023
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854594
ebirs137854594
HLIrs137854594
Exacrs137854594
Varsomers137854594
Maprs137854594
PheGenIrs137854594
hapmaprs137854594
1000 genomesrs137854594
hgdprs137854594
ensemblrs137854594
gopubmedrs137854594
geneviewrs137854594
scholarrs137854594
googlers137854594
pharmgkbrs137854594
gwascentralrs137854594
openSNPrs137854594
23andMers137854594
23andMe allrs137854594
SNP Nexus

SNPshotrs137854594
SNPdbers137854594
MSV3drs137854594
GWAS Ctlgrs137854594
Max Magnitude0
OMIM300481
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137854594(T;T)
Alt rs137854594(T;T)
Reference rs137854594(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.37651276C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011679.5, RCV000059256.1,


[PMID 9856476] A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical 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.