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rs104894511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894511(C;T)
Make rs104894511(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position88651007
GeneCYBA
is asnp
is mentioned by
dbSNPrs104894511
dbSNP (classic)rs104894511
ClinGenrs104894511
ebirs104894511
HLIrs104894511
Exacrs104894511
Gnomadrs104894511
Varsomers104894511
LitVarrs104894511
Maprs104894511
PheGenIrs104894511
Biobankrs104894511
1000 genomesrs104894511
hgdprs104894511
ensemblrs104894511
geneviewrs104894511
scholarrs104894511
googlers104894511
pharmgkbrs104894511
gwascentralrs104894511
openSNPrs104894511
23andMers104894511
SNPshotrs104894511
SNPdbers104894511
MSV3drs104894511
GWAS Ctlgrs104894511
Max Magnitude0
OMIM608508
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894511(T;T)
Alt rs104894511(T;T)
Reference Rs104894511(C;C)
Significance Pathogenic
Disease Granulomatous disease
Variation info
Gene CYBA
CLNDBN Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Reversed 1
HGVS NC_000016.9:g.88717415G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002352.2,