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rs104894510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894510(A;G)
Make rs104894510(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88646761
GeneCYBA
is asnp
is mentioned by
dbSNPrs104894510
dbSNP (classic)rs104894510
ClinGenrs104894510
ebirs104894510
HLIrs104894510
Exacrs104894510
Gnomadrs104894510
Varsomers104894510
LitVarrs104894510
Maprs104894510
PheGenIrs104894510
Biobankrs104894510
1000 genomesrs104894510
hgdprs104894510
ensemblrs104894510
geneviewrs104894510
scholarrs104894510
googlers104894510
pharmgkbrs104894510
gwascentralrs104894510
openSNPrs104894510
23andMers104894510
SNPshotrs104894510
SNPdbers104894510
MSV3drs104894510
GWAS Ctlgrs104894510
Max Magnitude0
OMIM608508
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894510(G;G)
Alt rs104894510(G;G)
Reference Rs104894510(A;A)
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.88713169T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002349.2,