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rs137854591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854591(A;G)
Make rs137854591(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37792024
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854591
ebirs137854591
HLIrs137854591
Exacrs137854591
Varsomers137854591
Maprs137854591
PheGenIrs137854591
hapmaprs137854591
1000 genomesrs137854591
hgdprs137854591
ensemblrs137854591
gopubmedrs137854591
geneviewrs137854591
scholarrs137854591
googlers137854591
pharmgkbrs137854591
gwascentralrs137854591
openSNPrs137854591
23andMers137854591
23andMe allrs137854591
SNP Nexus

SNPshotrs137854591
SNPdbers137854591
MSV3drs137854591
GWAS Ctlgrs137854591
Max Magnitude0
OMIM300481
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854591(G;G)
Alt rs137854591(G;G)
Reference rs137854591(A;A)
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.37651277A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011673.5, RCV000059257.1,


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