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rs151344478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs151344478(A;A)
Make rs151344478(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37810805
GeneCYBB
is asnp
is mentioned by
dbSNPrs151344478
ebirs151344478
HLIrs151344478
Exacrs151344478
Varsomers151344478
Maprs151344478
PheGenIrs151344478
hapmaprs151344478
1000 genomesrs151344478
hgdprs151344478
ensemblrs151344478
gopubmedrs151344478
geneviewrs151344478
scholarrs151344478
googlers151344478
pharmgkbrs151344478
gwascentralrs151344478
openSNPrs151344478
23andMers151344478
23andMe allrs151344478
SNP Nexus

SNPshotrs151344478
SNPdbers151344478
MSV3drs151344478
GWAS Ctlgrs151344478
Max Magnitude0
ClinVar
Risk rs151344478(A;A)
Alt rs151344478(A;A)
Reference rs151344478(T;T)
Significance Untested
Disease Chronic granulomatous disease not provided
Variation info
Gene CYBB
CLNDBN Chronic granulomatous disease, X-linked not provided
Reversed 0
HGVS NC_000023.10:g.37670058T>A
CLNSRC UniProtKB (variants)
CLNACC RCV000029626.1, RCV000059247.1,


[PMID 9585602OA-icon.png] X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.


[PMID 8961628] X-CGDbase: a database of X-CGD-causing mutations.


[PMID 11162142] Hematologically important mutations: X-linked chronic granulomatous disease (second update).


[PMID 20729109OA-icon.png] Hematologically important mutations: X-linked chronic granulomatous disease (third update).