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Rs104894515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894515(A;A)
Make rs104894515(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position88643474
GeneCYBA
is asnp
is mentioned by
dbSNPrs104894515
ebirs104894515
Exacrs104894515
PheGenIrs104894515
nextbiors104894515
hapmaprs104894515
1000 genomesrs104894515
hgdprs104894515
ensemblrs104894515
gopubmedrs104894515
geneviewrs104894515
scholarrs104894515
googlers104894515
pharmgkbrs104894515
gwascentralrs104894515
openSNPrs104894515
23andMers104894515
23andMe allrs104894515
SNP Nexus

SNPshotrs104894515
SNPdbers104894515
MSV3drs104894515
GWAS Ctlgrs104894515
Max Magnitude0
OMIM608508
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894515(A;A)
Alt rs104894515(A;A)
Reference rs104894515(C;C)
Significance Pathogenic
Disease Granulomatous disease
Variation info
Gene CYBA
CLNDBN Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Reversed 1
HGVS NC_000016.10:g.88643474G>T
CLNSRC ClinVar OMIM Allelic Variant
CLNACC RCV000002348.1,