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rs137854595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854595(A;A)
Make rs137854595(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37803886
GeneCYBB
is asnp
is mentioned by
dbSNPrs137854595
ebirs137854595
HLIrs137854595
Exacrs137854595
Varsomers137854595
Maprs137854595
PheGenIrs137854595
hapmaprs137854595
1000 genomesrs137854595
hgdprs137854595
ensemblrs137854595
gopubmedrs137854595
geneviewrs137854595
scholarrs137854595
googlers137854595
pharmgkbrs137854595
gwascentralrs137854595
openSNPrs137854595
23andMers137854595
23andMe allrs137854595
SNP Nexus

SNPshotrs137854595
SNPdbers137854595
MSV3drs137854595
GWAS Ctlgrs137854595
Merged fromRs28935182
Max Magnitude0
OMIM300481
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137854595(A;A)
Alt rs137854595(A;A)
Reference rs137854595(C;C)
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.37663139C>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000011683.5, RCV000059279.1,


[PMID 11997083] Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.