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rs273585651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs273585651(-;-)
Make rs273585651(-;GT)
ReferenceGRCh38 38.1/141
Chromosome7
Position74777269
GeneNCF1
is asnp
is mentioned by
dbSNPrs273585651
dbSNP (classic)rs273585651
ClinGenrs273585651
ebirs273585651
HLIrs273585651
Exacrs273585651
Gnomadrs273585651
Varsomers273585651
LitVarrs273585651
Maprs273585651
PheGenIrs273585651
Biobankrs273585651
1000 genomesrs273585651
hgdprs273585651
ensemblrs273585651
geneviewrs273585651
scholarrs273585651
googlers273585651
pharmgkbrs273585651
gwascentralrs273585651
openSNPrs273585651
23andMers273585651
SNPshotrs273585651
SNPdbers273585651
MSV3drs273585651
GWAS Ctlgrs273585651
Max Magnitude0
ClinVar
Risk rs273585651(-;-)
Alt rs273585651(-;-)
Reference Rs273585651(GT;GT)
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.74191615_74191616delGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002337.4,