rs104894515

Orientation

minus

Stabilized

minus

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

Make rs104894515(A;A)

Make rs104894515(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88643474

Gene

CYBA

is a	snp
is	mentioned by
dbSNP	rs104894515
dbSNP (classic)	rs104894515
ClinGen	rs104894515
ebi	rs104894515
HLI	rs104894515
Exac	rs104894515
Gnomad	rs104894515
Varsome	rs104894515
LitVar	rs104894515
Map	rs104894515
PheGenI	rs104894515
Biobank	rs104894515
1000 genomes	rs104894515
hgdp	rs104894515
ensembl	rs104894515
geneview	rs104894515
scholar	rs104894515
google	rs104894515
pharmgkb	rs104894515
gwascentral	rs104894515
openSNP	rs104894515
23andMe	rs104894515
SNPshot	rs104894515
SNPdbe	rs104894515
MSV3d	rs104894515
GWAS Ctlg	rs104894515

Max Magnitude

0

OMIM	608508
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894515(A;A)
Alt	rs104894515(A;A)
Reference	Rs104894515(C;C)
Significance	Pathogenic
Disease	Granulomatous disease Chronic granulomatous disease
Variation	info
Gene	CYBA
CLNDBN	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Chronic granulomatous disease
Reversed	1
HGVS	NC_000016.9:g.88709882G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002348.2, RCV000208600.1,