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rs796065032

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796065032(A;A)
Make rs796065032(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position183577598
GeneNCF2
is asnp
is mentioned by
dbSNPrs796065032
dbSNP (classic)rs796065032
ClinGenrs796065032
ebirs796065032
HLIrs796065032
Exacrs796065032
Gnomadrs796065032
Varsomers796065032
LitVarrs796065032
Maprs796065032
PheGenIrs796065032
Biobankrs796065032
1000 genomesrs796065032
hgdprs796065032
ensemblrs796065032
geneviewrs796065032
scholarrs796065032
googlers796065032
pharmgkbrs796065032
gwascentralrs796065032
openSNPrs796065032
23andMers796065032
SNPshotrs796065032
SNPdbers796065032
MSV3drs796065032
GWAS Ctlgrs796065032
Max Magnitude0
ClinVar
Risk rs796065032(A;A) rs796065032(C;C)
Alt rs796065032(A;A) rs796065032(C;C)
Reference Rs796065032(G;G)
Significance Pathogenic
Disease not provided Chronic granulomatous disease
Variation info
Gene NCF2
CLNDBN not provided Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Reversed 1
HGVS NC_000001.10:g.183546733C>G; NC_000001.10:g.183546733C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412968.1, RCV000002331.3,