rs13306575

minus

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

Make rs13306575(C;T)

Make rs13306575(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

183563302

Gene

NCF2

is a	snp
is	mentioned by
dbSNP	rs13306575
dbSNP (classic)	rs13306575
ClinGen	rs13306575
ebi	rs13306575
HLI	rs13306575
Exac	rs13306575
Gnomad	rs13306575
Varsome	rs13306575
LitVar	rs13306575
Map	rs13306575
PheGenI	rs13306575
Biobank	rs13306575
1000 genomes	rs13306575
hgdp	rs13306575
ensembl	rs13306575
geneview	rs13306575
scholar	rs13306575
google	rs13306575
pharmgkb	rs13306575
gwascentral	rs13306575
openSNP	rs13306575
23andMe	rs13306575
SNPshot	rs13306575
SNPdbe	rs13306575
MSV3d	rs13306575
GWAS Ctlg	rs13306575

GMAF

0.01653

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

OMIM	608515
Desc
Variant	0010
Related	also

ClinVar
Risk	rs13306575(A;A) rs13306575(G;G) rs13306575(T;T)
Alt	rs13306575(A;A) rs13306575(G;G) rs13306575(T;T)
Reference	Rs13306575(C;C)
Significance	Pathogenic
Disease	Chronic granulomatous disease Chronic granulomatous disease
Variation	info
Gene	NCF2
CLNDBN	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Chronic granulomatous disease
Reversed	1
HGVS	NC_000001.10:g.183532437G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002336.3, RCV000407030.1,

[PMID 16608528 ] Genetic polymorphisms and susceptibility to lung disease.

[PMID 17897462 ] A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity.

[PMID 24163247 ] Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations