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rs119103275

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103275(A;A)
Make rs119103275(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position183586922
GeneNCF2
is asnp
is mentioned by
dbSNPrs119103275
ebirs119103275
HLIrs119103275
Exacrs119103275
Varsomers119103275
Maprs119103275
PheGenIrs119103275
hapmaprs119103275
1000 genomesrs119103275
hgdprs119103275
ensemblrs119103275
gopubmedrs119103275
geneviewrs119103275
scholarrs119103275
googlers119103275
pharmgkbrs119103275
gwascentralrs119103275
openSNPrs119103275
23andMers119103275
23andMe allrs119103275
SNP Nexus

SNPshotrs119103275
SNPdbers119103275
MSV3drs119103275
GWAS Ctlgrs119103275
Max Magnitude0
OMIM608515
Desc
Variant0008
Relatedalso
OMIM233710
Desc
Variant
Relatedalso
ClinVar
Risk rs119103275(A;A)
Alt rs119103275(A;A)
Reference rs119103275(G;G)
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.183556057C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002335.4,


[PMID 10598813] Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.