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rs193922449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922449(G;T)
Make rs193922449(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37796074
GeneCYBB
is asnp
is mentioned by
dbSNPrs193922449
ebirs193922449
HLIrs193922449
Exacrs193922449
Varsomers193922449
Maprs193922449
PheGenIrs193922449
hapmaprs193922449
1000 genomesrs193922449
hgdprs193922449
ensemblrs193922449
gopubmedrs193922449
geneviewrs193922449
scholarrs193922449
googlers193922449
pharmgkbrs193922449
gwascentralrs193922449
openSNPrs193922449
23andMers193922449
23andMe allrs193922449
SNP Nexus

SNPshotrs193922449
SNPdbers193922449
MSV3drs193922449
GWAS Ctlgrs193922449
Max Magnitude0
ClinVar
Risk rs193922449(T;T)
Alt rs193922449(T;T)
Reference rs193922449(G;G)
Significance Probable-Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene CYBB
CLNDBN Chronic granulomatous disease, X-linked
Reversed 0
HGVS NC_000023.10:g.37655327G>T
CLNSRC ClinVar
CLNACC RCV000029630.1,


[PMID 8634410] Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.


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


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