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rs7151526

From SNPedia

SNP in 5'UTR of SERPINA1
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.1 possible increased risk for ANCA associated vasculitis
(C;C) 0 normal
Make rs7151526(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position94397299
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs7151526
ebirs7151526
HLIrs7151526
Exacrs7151526
Varsomers7151526
Maprs7151526
PheGenIrs7151526
hapmaprs7151526
1000 genomesrs7151526
hgdprs7151526
ensemblrs7151526
gopubmedrs7151526
geneviewrs7151526
scholarrs7151526
googlers7151526
pharmgkbrs7151526
gwascentralrs7151526
openSNPrs7151526
23andMers7151526
23andMe allrs7151526
SNP Nexus

SNPshotrs7151526
SNPdbers7151526
MSV3drs7151526
GWAS Ctlgrs7151526
GMAF0.02112
Max Magnitude1.1
? (A;A) (A;C) (C;C) 28
rs7151526 is an SNP in the 5'UTR of the SERPINA1 (alpha-1-antritrypsin/AAT) gene, with potential effects on AAT activity. [PMID 23990791]

A recent study showed a strong association of the rs7151526(A) allele with anca-associated vasculitides [PMID 25452756]

GWAS snp
PMID [PMID 22808956OA-icon.png]
Trait Antineutrophil cytoplasmic antibody-associated vasculitis
Title Genetically distinct subsets within ANCA-associated vasculitis.
Risk Allele A
P-val 2E-9
Odds Ratio 1.69 [NR]


ClinVar
Risk rs7151526(A;A)
Alt rs7151526(A;A)
Reference rs7151526(C;C)
Significance Other
Disease Possible: Alpha-1-antitrypsin deficiency, ANCA Vasculitis
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency,ANCA Vasculitis
Reversed 0
HGVS NC_000014.8:g.94863636C>A
CLNSRC OMIM Allelic Variant
CLNACC