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rs11558261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 carrier for Alpha-1 Antitrypsin Deficiency
(G;G) 0 common in complete genomics


Make rs11558261(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position94382823
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs11558261
dbSNP (classic)rs11558261
ClinGenrs11558261
ebirs11558261
HLIrs11558261
Exacrs11558261
Gnomadrs11558261
Varsomers11558261
LitVarrs11558261
Maprs11558261
PheGenIrs11558261
Biobankrs11558261
1000 genomesrs11558261
hgdprs11558261
ensemblrs11558261
geneviewrs11558261
scholarrs11558261
googlers11558261
pharmgkbrs11558261
gwascentralrs11558261
openSNPrs11558261
23andMers11558261
SNPshotrs11558261
SNPdbers11558261
MSV3drs11558261
GWAS Ctlgrs11558261
Merged fromRs28931571
Max Magnitude3
OMIM107400
Desc
Variant0030
Relatedalso


ClinVar
Risk rs11558261(A;A)
Alt rs11558261(A;A)
Reference Rs11558261(G;G)
Significance Other
Disease PI NULL(DEVON) PI Q0(DEVON) PI NULL(NEWPORT) PI Q0(NEWPORT)
Variation info
Gene SERPINA1
CLNDBN PI NULL(DEVON) PI Q0(DEVON) PI NULL(NEWPORT) PI Q0(NEWPORT)
Reversed 1
HGVS NC_000014.8:g.94849160C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019597.4, RCV000019598.4, RCV000019599.4, RCV000019600.4,