rs137854585

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs137854585(A;A)

Make rs137854585(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

37805098

Gene

CYBB

is a	snp
is	mentioned by
dbSNP	rs137854585
dbSNP (classic)	rs137854585
ClinGen	rs137854585
ebi	rs137854585
HLI	rs137854585
Exac	rs137854585
Gnomad	rs137854585
Varsome	rs137854585
LitVar	rs137854585
Map	rs137854585
PheGenI	rs137854585
Biobank	rs137854585
1000 genomes	rs137854585
hgdp	rs137854585
ensembl	rs137854585
geneview	rs137854585
scholar	rs137854585
google	rs137854585
pharmgkb	rs137854585
gwascentral	rs137854585
openSNP	rs137854585
23andMe	rs137854585
SNPshot	rs137854585
SNPdbe	rs137854585
MSV3d	rs137854585
GWAS Ctlg	rs137854585

Max Magnitude

0

OMIM	300481
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137854585(A;A) rs137854585(T;T)
Alt	rs137854585(A;A) rs137854585(T;T)
Reference	Rs137854585(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.37664351C>A; NC_000023.10:g.37664351C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000011667.3, RCV000059237.1, RCV000059238.1,

[PMID 2556453] A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

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