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rs119103272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103272(A;A)
Make rs119103272(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position74779360
GeneNCF1
is asnp
is mentioned by
dbSNPrs119103272
ebirs119103272
HLIrs119103272
Exacrs119103272
Varsomers119103272
Maprs119103272
PheGenIrs119103272
hapmaprs119103272
1000 genomesrs119103272
hgdprs119103272
ensemblrs119103272
gopubmedrs119103272
geneviewrs119103272
scholarrs119103272
googlers119103272
pharmgkbrs119103272
gwascentralrs119103272
openSNPrs119103272
23andMers119103272
23andMe allrs119103272
SNP Nexus

SNPshotrs119103272
SNPdbers119103272
MSV3drs119103272
GWAS Ctlgrs119103272
Max Magnitude0
OMIM608512
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119103272(A;A)
Alt rs119103272(A;A)
Reference rs119103272(T;T)
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.74193706T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002342.3,