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rs119103271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103271(C;T)
Make rs119103271(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position74779298
GeneNCF1
is asnp
is mentioned by
dbSNPrs119103271
ebirs119103271
HLIrs119103271
Exacrs119103271
Varsomers119103271
Maprs119103271
PheGenIrs119103271
hapmaprs119103271
1000 genomesrs119103271
hgdprs119103271
ensemblrs119103271
gopubmedrs119103271
geneviewrs119103271
scholarrs119103271
googlers119103271
pharmgkbrs119103271
gwascentralrs119103271
openSNPrs119103271
23andMers119103271
23andMe allrs119103271
SNP Nexus

SNPshotrs119103271
SNPdbers119103271
MSV3drs119103271
GWAS Ctlgrs119103271
Max Magnitude0
OMIM608512
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103271(T;T)
Alt rs119103271(T;T)
Reference rs119103271(C;C)
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.74193644C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002341.3,