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rs151344497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs151344497(A;C)
Make rs151344497(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37795999
GeneCYBB
is asnp
is mentioned by
dbSNPrs151344497
ebirs151344497
HLIrs151344497
Exacrs151344497
Varsomers151344497
Maprs151344497
PheGenIrs151344497
hapmaprs151344497
1000 genomesrs151344497
hgdprs151344497
ensemblrs151344497
gopubmedrs151344497
geneviewrs151344497
scholarrs151344497
googlers151344497
pharmgkbrs151344497
gwascentralrs151344497
openSNPrs151344497
23andMers151344497
23andMe allrs151344497
SNP Nexus

SNPshotrs151344497
SNPdbers151344497
MSV3drs151344497
GWAS Ctlgrs151344497
Max Magnitude0
ClinVar
Risk rs151344497(C;C)
Alt rs151344497(C;C)
Reference rs151344497(A;A)
Significance Pathogenic
Disease Atypical mycobacteriosis not provided Chronic granulomatous disease
Variation info
Gene CYBB
CLNDBN Atypical mycobacteriosis, familial, X-linked 2 not provided Chronic granulomatous disease
Reversed 0
HGVS NC_000023.10:g.37655252A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022862.6, RCV000059260.1, RCV000208608.1,


[PMID 21278736OA-icon.png] Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.