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rs28941476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28941476(A;A)
Make rs28941476(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88648103
GeneCYBA
is asnp
is mentioned by
dbSNPrs28941476
ebirs28941476
HLIrs28941476
Exacrs28941476
Varsomers28941476
Maprs28941476
PheGenIrs28941476
hapmaprs28941476
1000 genomesrs28941476
hgdprs28941476
ensemblrs28941476
gopubmedrs28941476
geneviewrs28941476
scholarrs28941476
googlers28941476
pharmgkbrs28941476
gwascentralrs28941476
openSNPrs28941476
23andMers28941476
23andMe allrs28941476
SNP Nexus

SNPshotrs28941476
SNPdbers28941476
MSV3drs28941476
GWAS Ctlgrs28941476
Max Magnitude0
OMIM608508
DescGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
Variant0010
Relatedalso


ClinVar
Risk rs28941476(A;A)
Alt rs28941476(A;A)
Reference rs28941476(G;G)
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.88714511C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002353.2,