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rs137854587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854587(C;T)
Make rs137854587(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37796092
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854587
ebirs137854587
HLIrs137854587
Exacrs137854587
Varsomers137854587
Maprs137854587
PheGenIrs137854587
hapmaprs137854587
1000 genomesrs137854587
hgdprs137854587
ensemblrs137854587
gopubmedrs137854587
geneviewrs137854587
scholarrs137854587
googlers137854587
pharmgkbrs137854587
gwascentralrs137854587
openSNPrs137854587
23andMers137854587
23andMe allrs137854587
SNP Nexus

SNPshotrs137854587
SNPdbers137854587
MSV3drs137854587
GWAS Ctlgrs137854587
Max Magnitude0
OMIM300481
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137854587(T;T)
Alt rs137854587(T;T)
Reference rs137854587(C;C)
Significance Pathogenic
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.37655345C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011669.2, RCV000059265.1,


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