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rs387906808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906808(A;A)
Make rs387906808(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36867434
GeneLOC107985578, NCF4
is asnp
is mentioned by
dbSNPrs387906808
dbSNP (classic)rs387906808
ClinGenrs387906808
ebirs387906808
HLIrs387906808
Exacrs387906808
Gnomadrs387906808
Varsomers387906808
LitVarrs387906808
Maprs387906808
PheGenIrs387906808
Biobankrs387906808
1000 genomesrs387906808
hgdprs387906808
ensemblrs387906808
geneviewrs387906808
scholarrs387906808
googlers387906808
pharmgkbrs387906808
gwascentralrs387906808
openSNPrs387906808
23andMers387906808
SNPshotrs387906808
SNPdbers387906808
MSV3drs387906808
GWAS Ctlgrs387906808
Max Magnitude0
ClinVar
Risk rs387906808(A;A) rs387906808(C;C) rs387906808(T;T)
Alt rs387906808(A;A) rs387906808(C;C) rs387906808(T;T)
Reference Rs387906808(G;G)
Significance Pathogenic
Disease Granulomatous disease Chronic granulomatous disease
Variation info
Gene NCF4
CLNDBN Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III Chronic granulomatous disease
Reversed 0
HGVS NC_000022.10:g.37263476G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023113.5, RCV000208606.1,