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rs119103276

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103276(C;T)
Make rs119103276(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position183577667
GeneNCF2
is asnp
is mentioned by
dbSNPrs119103276
ebirs119103276
HLIrs119103276
Exacrs119103276
Varsomers119103276
Maprs119103276
PheGenIrs119103276
hapmaprs119103276
1000 genomesrs119103276
hgdprs119103276
ensemblrs119103276
gopubmedrs119103276
geneviewrs119103276
scholarrs119103276
googlers119103276
pharmgkbrs119103276
gwascentralrs119103276
openSNPrs119103276
23andMers119103276
23andMe allrs119103276
SNP Nexus

SNPshotrs119103276
SNPdbers119103276
MSV3drs119103276
GWAS Ctlgrs119103276
Max Magnitude0
OMIM608515
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119103276(G,T;G,T)
Alt rs119103276(G,T;G,T)
Reference rs119103276(C;C)
Significance Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene NCF2
CLNDBN Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Reversed 1
HGVS NC_000001.10:g.183546802G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002332.3,