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rs34730753

From SNPedia

Merged intors2274064
Orientationplus
Stabilizedplus
Make rs34730753(C;C)
Make rs34730753(C;T)
Make rs34730753(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position183573252
GeneNCF2
is asnp
is mentioned by
dbSNPrs34730753
ebirs34730753
HLIrs34730753
Exacrs34730753
Varsomers34730753
Maprs34730753
PheGenIrs34730753
hapmaprs34730753
1000 genomesrs34730753
hgdprs34730753
ensemblrs34730753
gopubmedrs34730753
geneviewrs34730753
scholarrs34730753
googlers34730753
pharmgkbrs34730753
gwascentralrs34730753
openSNPrs34730753
23andMers34730753
23andMe allrs34730753
SNP Nexus

SNPshotrs34730753
SNPdbers34730753
MSV3drs34730753
GWAS Ctlgrs34730753
StatusMerged into rs2274064
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene NCF2
allele C
frequency
sift TOLERATED
HuRef 1103675279655
Disease Association Defects in NCF2 are a cause of autosomal recessive chronic granulomatous disease (AR-CGD) (MIM:233710); also known as autosomal cytochrome-b-positive chronic granulomatous disease. It causes recurrent infection by catalase-positive organisms.