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rs137878529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137878529(C;C)
Make rs137878529(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position183574507
GeneNCF2
is asnp
is mentioned by
dbSNPrs137878529
ebirs137878529
HLIrs137878529
Exacrs137878529
Varsomers137878529
Maprs137878529
PheGenIrs137878529
hapmaprs137878529
1000 genomesrs137878529
hgdprs137878529
ensemblrs137878529
gopubmedrs137878529
geneviewrs137878529
scholarrs137878529
googlers137878529
pharmgkbrs137878529
gwascentralrs137878529
openSNPrs137878529
23andMers137878529
23andMe allrs137878529
SNP Nexus

SNPshotrs137878529
SNPdbers137878529
MSV3drs137878529
GWAS Ctlgrs137878529
Max Magnitude0
ClinVar
Risk rs137878529(C;C)
Alt rs137878529(C;C)
Reference rs137878529(T;T)
Significance Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene NCF2
CLNDBN Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Reversed 0
HGVS NC_000001.10:g.183543642T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002328.2,