rs193922449

Orientation

plus

Stabilized

plus

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

Make rs193922449(G;T)

Make rs193922449(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

37796074

Gene

CYBB

is a	snp
is	mentioned by
dbSNP	rs193922449
dbSNP (classic)	rs193922449
ClinGen	rs193922449
ebi	rs193922449
HLI	rs193922449
Exac	rs193922449
Gnomad	rs193922449
Varsome	rs193922449
LitVar	rs193922449
Map	rs193922449
PheGenI	rs193922449
Biobank	rs193922449
1000 genomes	rs193922449
hgdp	rs193922449
ensembl	rs193922449
geneview	rs193922449
scholar	rs193922449
google	rs193922449
pharmgkb	rs193922449
gwascentral	rs193922449
openSNP	rs193922449
23andMe	rs193922449
SNPshot	rs193922449
SNPdbe	rs193922449
MSV3d	rs193922449
GWAS Ctlg	rs193922449

Max Magnitude

0

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).