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rs13306575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs13306575(C;T)
Make rs13306575(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position183563302
GeneNCF2
is asnp
is mentioned by
dbSNPrs13306575
ebirs13306575
HLIrs13306575
Exacrs13306575
Varsomers13306575
Maprs13306575
PheGenIrs13306575
hapmaprs13306575
1000 genomesrs13306575
hgdprs13306575
ensemblrs13306575
gopubmedrs13306575
geneviewrs13306575
scholarrs13306575
googlers13306575
pharmgkbrs13306575
gwascentralrs13306575
openSNPrs13306575
23andMers13306575
23andMe allrs13306575
SNP Nexus

SNPshotrs13306575
SNPdbers13306575
MSV3drs13306575
GWAS Ctlgrs13306575
GMAF0.01653
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM608515
Desc
Variant0010
Relatedalso


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



[PMID 16608528OA-icon.png] Genetic polymorphisms and susceptibility to lung disease.


[PMID 17897462OA-icon.png] 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.


GET Evidence
NCF2-R395W
aa_change Arg395Trp
aa_change_short R395W
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00102249
summary



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