Rs104894514

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Orientationminus
is asnp
is mentioned by
dbSNPrs104894514
PheGenIrs104894514
nextbiors104894514
hapmaprs104894514
1000 genomesrs104894514
hgdprs104894514
ensemblrs104894514
gopubmedrs104894514
geneviewrs104894514
scholarrs104894514
googlers104894514
pharmgkbrs104894514
gwascentralrs104894514
openSNPrs104894514
23andMers104894514
23andMe allrs104894514
SNP Nexus

SNPshotrs104894514
SNPdbers104894514
MSV3drs104894514
GeneCYBA
Chromosome16
Orientationminus
GMAF0.0009183
Position88712539
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894514(A;A)
Make rs104894514(A;C)
OMIM608508
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894514(A,T;A,T)
Alt rs104894514(A,T;A,T)
Reference rs104894514(C;C)
Significance 5
Disease Granulomatous disease, not provided
ClinVar info
Gene CYBA
CLNDBN Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative, not provided
Reversed 1
CLNHGVS NC_000016.9:g.88712539G>T
CLNSRC OMIM Allelic Variant, UniProtKB (variants)
CLNACC RCV000002347.1, RCV000059045.1


[PMID 10910929] Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).