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rs119103273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103273(A;A)
Make rs119103273(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position74783061
GeneNCF1
is asnp
is mentioned by
dbSNPrs119103273
ebirs119103273
HLIrs119103273
Exacrs119103273
Varsomers119103273
Maprs119103273
PheGenIrs119103273
hapmaprs119103273
1000 genomesrs119103273
hgdprs119103273
ensemblrs119103273
gopubmedrs119103273
geneviewrs119103273
scholarrs119103273
googlers119103273
pharmgkbrs119103273
gwascentralrs119103273
openSNPrs119103273
23andMers119103273
23andMe allrs119103273
SNP Nexus

SNPshotrs119103273
SNPdbers119103273
MSV3drs119103273
GWAS Ctlgrs119103273
Max Magnitude0
OMIM608512
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119103273(A;A)
Alt rs119103273(A;A)
Reference rs119103273(G;G)
Significance Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene NCF1
CLNDBN Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1
Reversed 0
HGVS NC_000007.13:g.74197404G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002343.3,