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rs199422211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 3 carrier for Alpha-1 Antitrypsin Deficiency
Make rs199422211(A;A)
Make rs199422211(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position94381067
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs199422211
dbSNP (old)rs199422211
ClinGenrs199422211
ebirs199422211
HLIrs199422211
Exacrs199422211
Varsomers199422211
Maprs199422211
PheGenIrs199422211
Biobankrs199422211
1000 genomesrs199422211
hgdprs199422211
ensemblrs199422211
gopubmedrs199422211
geneviewrs199422211
scholarrs199422211
googlers199422211
pharmgkbrs199422211
gwascentralrs199422211
openSNPrs199422211
23andMers199422211
23andMe allrs199422211
SNP Nexus

SNPshotrs199422211
SNPdbers199422211
MSV3drs199422211
GWAS Ctlgrs199422211
Max Magnitude3


ClinVar
Risk rs199422211(T;T)
Alt rs199422211(T;T)
Reference rs199422211(A;A)
Significance Other
Disease PI NULL(BELLINGHAM) PI Q0(BELLINGHAM) Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN PI NULL(BELLINGHAM) PI Q0(BELLINGHAM) Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94847404T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019581.2, RCV000019582.2, RCV000169162.1,