{{Rsnum
|rsid=1303
|Gene=SERPINA1
|Chromosome=14
|position=94378506
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.2268
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=SERPINA1
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 7.1 | 44.2 | 48.7
| HCB | 9.5 | 40.9 | 49.6
| JPT | 8.8 | 41.6 | 49.6
| YRI | 2.0 | 15.0 | 83.0
| ASW | 0.0 | 19.3 | 80.7
| CHB | 9.5 | 40.9 | 49.6
| CHD | 13.8 | 36.7 | 49.5
| GIH | 23.8 | 44.6 | 31.7
| LWK | 0.0 | 6.4 | 93.6
| MEX | 5.2 | 48.3 | 46.6
| MKK | 0.6 | 19.2 | 80.1
| TSI | 5.9 | 32.4 | 61.8
| HapMapRevision=28
}}{{omim
|desc=PI M3
|id=107400
|rsnum=1303
|variant=0004
}}

{{ neighbor
| rsid = 28929473
| distance = 69
}}

{{PMID|21067581|OA=1
}} finds no association between [[rs1303]] and pulmonary emphysema

{{PMID Auto
|PMID=20558996
|Title=Pilot Study on Schizophrenia in Sardinia
}}

{{ClinVar
|rsid=1303
|Reversed=0
|FwdREF=T
|FwdALT=G
|REF=T
|ALT=G
|RSPOS=94844843
|CHROM=14
|GMAF=0.2266
|dbSNPBuildID=36
|SSR=0
|SAO=1
|VP=0x05036800000015051f130100
|GENEINFO=SERPINA1:5265
|GENE_NAME=SERPINA1
|GENE_ID=5265
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.94844843T>G
|CLNORIGIN=0
|CLNSIG=255
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.7732; 0.2268
|CLNACC=RCV000019558.1
|CLNDBN=PI M3
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=107400.0004
|COMMON=1
|Disease=PI M3
}}

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

{{GET Evidence
|gene=SERPINA1
|aa_change=Glu400Asp
|aa_change_short=E400D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1303
|overall_frequency_n=2240
|overall_frequency_d=10758
|overall_frequency=0.208217
|n_genomes=19
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=2
}}

{{PMID Auto GWAS
  |PMID=22916037
  |Trait=Metabolite levels
  |Title=Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
  |RiskAllele=
  |Pval=5E-48
  |OR=NR
  |ORtxt=NR
  |OA=1
}}

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