{{Rsnum
|rsid=709932
|Gene=SERPINA1
|Chromosome=14
|position=94382864
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1309
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SERPINA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 29.2 | 69.9
| HCB | 5.1 | 35.0 | 59.9
| JPT | 6.2 | 40.7 | 53.1
| YRI | 0.0 | 2.0 | 98.0
| ASW | 0.0 | 10.5 | 89.5
| CHB | 5.1 | 35.0 | 59.9
| CHD | 9.2 | 31.2 | 59.6
| GIH | 10.9 | 44.6 | 44.6
| LWK | 0.0 | 1.8 | 98.2
| MEX | 1.7 | 10.3 | 87.9
| MKK | 0.0 | 13.1 | 86.9
| TSI | 2.9 | 21.6 | 75.5
| HapMapRevision=28
}}

{{omim
|desc=PI M2
|id=107400
|rsnum=709932
|variant=0003
}}
{{omim
| id = 107400
| variant = 0005
| desc    = PI M4
| rsnum   = 709932
}}

{{ neighbor
| rsid = 28931572
| distance = 27
}}

{{PMID|21067581|OA=1
}} finds no association between [[rs709932]] and pulmonary emphysema

{{PMID Auto
|PMID=22723858
|Title=Three New Alpha1-Antitrypsin Deficiency Variants Help to Define a C-Terminal Region Regulating Conformational Change and Polymerization
|OA=1
}}

{{ClinVar
|rsid=709932
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=94849201
|CHROM=14
|GMAF=0.1305
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000000150517110101
|GENEINFO=SERPINA1:5265
|GENE_NAME=SERPINA1
|GENE_ID=5265
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.94849201C>T
|CLNORIGIN=0
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8691; 0.1309
|CLNACC=RCV000019557.1; RCV000019559.1
|CLNDBN=PI M2; PI M4
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=107400.0003; 107400.0005
|COMMON=1
|Disease=PI M2; PI M4
}}

{{PMID Auto
|PMID=16608528
|Title=Genetic polymorphisms and susceptibility to lung disease.
|OA=1
}}

{{PMID Auto
|PMID=22426792
|Title=Serum levels and genotype distribution of alpha1-antitrypsin in the general population.
}}

{{GET Evidence
|gene=SERPINA1
|aa_change=Arg125His
|aa_change_short=R125H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs709932
|overall_frequency_n=1301
|overall_frequency_d=10758
|overall_frequency=0.120933
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=14
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}