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rs387906486

From SNPedia

Orientationplus
Geno Mag Summary
(CCG;CCG) 0 common in clinvar
Make rs387906486(CCG;GGT)
Make rs387906486(GGT;GGT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position37782132
GeneCYBB
is asnp
is mentioned by
dbSNPrs387906486
ebirs387906486
HLIrs387906486
Exacrs387906486
Varsomers387906486
Maprs387906486
PheGenIrs387906486
hapmaprs387906486
1000 genomesrs387906486
hgdprs387906486
ensemblrs387906486
gopubmedrs387906486
geneviewrs387906486
scholarrs387906486
googlers387906486
pharmgkbrs387906486
gwascentralrs387906486
openSNPrs387906486
23andMers387906486
23andMe allrs387906486
SNP Nexus

SNPshotrs387906486
SNPdbers387906486
MSV3drs387906486
GWAS Ctlgrs387906486
Max Magnitude0
ClinVar
Risk rs387906486(GGT;GGT)
Alt rs387906486(GGT;GGT)
Reference rs387906486(CCG;CCG)
Significance Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene CYBB
CLNDBN Chronic granulomatous disease, X-linked
Reversed 0
HGVS NC_000023.10:g.37641385_37641387delCCGinsGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011687.4,