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rs119103274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103274(C;T)
Make rs119103274(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position183574605
GeneNCF2
is asnp
is mentioned by
dbSNPrs119103274
ebirs119103274
HLIrs119103274
Exacrs119103274
Varsomers119103274
Maprs119103274
PheGenIrs119103274
hapmaprs119103274
1000 genomesrs119103274
hgdprs119103274
ensemblrs119103274
gopubmedrs119103274
geneviewrs119103274
scholarrs119103274
googlers119103274
pharmgkbrs119103274
gwascentralrs119103274
openSNPrs119103274
23andMers119103274
23andMe allrs119103274
SNP Nexus

SNPshotrs119103274
SNPdbers119103274
MSV3drs119103274
GWAS Ctlgrs119103274
Max Magnitude0
OMIM608515
Desc
Variant0007
Relatedalso
OMIM233710
Desc
Variant
Relatedalso
ClinVar
Risk rs119103274(T;T)
Alt rs119103274(T;T)
Reference rs119103274(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.183543740G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000002334.4,


[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.