rs104894514

Orientation

minus

Stabilized

minus

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

Make rs104894514(A;A)

Make rs104894514(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88646131

Gene

CYBA

is a	snp
is	mentioned by
dbSNP	rs104894514
dbSNP (classic)	rs104894514
ClinGen	rs104894514
ebi	rs104894514
HLI	rs104894514
Exac	rs104894514
Gnomad	rs104894514
Varsome	rs104894514
LitVar	rs104894514
Map	rs104894514
PheGenI	rs104894514
Biobank	rs104894514
1000 genomes	rs104894514
hgdp	rs104894514
ensembl	rs104894514
geneview	rs104894514
scholar	rs104894514
google	rs104894514
pharmgkb	rs104894514
gwascentral	rs104894514
openSNP	rs104894514
23andMe	rs104894514
SNPshot	rs104894514
SNPdbe	rs104894514
MSV3d	rs104894514
GWAS Ctlg	rs104894514

GMAF

0.0009183

Max Magnitude

0

OMIM	608508
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894514(A;A) rs104894514(T;T)
Alt	rs104894514(A;A) rs104894514(T;T)
Reference	Rs104894514(C;C)
Significance	Pathogenic
Disease	Granulomatous disease not provided
Variation	info
Gene	CYBA
CLNDBN	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative not provided
Reversed	1
HGVS	NC_000016.9:g.88712539G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002347.2, RCV000059045.1,

[PMID 10910929] Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).