{{Rsnum
|rsid=6647
|Gene=SERPINA1
|Chromosome=14
|position=94381078
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2438
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SERPINA1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 7.1 | 31.9 | 61.1
| HCB | 0.0 | 3.6 | 96.4
| JPT | 0.0 | 1.8 | 98.2
| YRI | 40.8 | 44.9 | 14.3
| ASW | 27.3 | 49.1 | 23.6
| CHB | 0.0 | 3.6 | 96.4
| CHD | 0.0 | 5.5 | 94.5
| GIH | 2.0 | 28.7 | 69.3
| LWK | 40.4 | 47.7 | 11.9
| MEX | 0.0 | 12.1 | 87.9
| MKK | 22.4 | 50.0 | 27.6
| TSI | 2.0 | 25.5 | 72.5
| HapMapRevision=28
}}{{omim
|desc=PI M1-VAL213
|id=107400
|rsnum=6647
|variant=0002
}}

{{ neighbor
| rsid = 28929470
| distance = 29
}}

{{Venter SNP
|rsid=6647
|allele=G
|frequency=0.225
|uid=1103649133295
|type=heterozygous_SNP
|hugo=SERPINA1
|ensembl gene=ENSG00000197249
|ensembl transcript=ENST00000355814
|sift=TOLERATED
|disease=Variant Pittsburgh is the cause of bleeding diathesis.
}}

{{ClinVar
|rsid=6647
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=94847415
|CHROM=14
|GMAF=0.2445
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05036800000015051f110100
|GENEINFO=SERPINA1:5265
|GENE_NAME=SERPINA1
|GENE_ID=5265
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.94847415A>G
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7562; 0.2438
|CLNACC=RCV000019553.1; RCV000019554.26
|CLNDBN=PI M1-ALA213; PI, M1A
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=107400.0001
|COMMON=1
|Disease=PI M1-ALA213; PI
}}

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

{{GET Evidence
|gene=SERPINA1
|aa_change=Val237Ala
|aa_change_short=V237A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6647
|overall_frequency_n=3513
|overall_frequency_d=10758
|overall_frequency=0.326548
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=43
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=1
}}

{{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}}