{{Rsnum
|rsid=5911
|Gene=ITGA2B
|Chromosome=17
|position=44375697
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.4045
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ITGA2B
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 46.9 | 45.3 | 7.8
| HCB | 33.3 | 40.0 | 26.7
| JPT | 43.2 | 47.7 | 9.1
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 33.3 | 40.0 | 26.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=5911
|allele=C
|frequency=0.297
|uid=1103645329870
|type=heterozygous_SNP
|hugo=ITGA2B
|ensembl gene=ENSG00000005961
|ensembl transcript=ENST00000262407
|sift=TOLERATED
|disease=Defects in ITGA2B are a cause of Glanzmann thrombasthenia (GT) (MIM:273800); also known as thrombasthenia of Glanzmann and Naegeli. This autosomal recessive disorder is the most common inherited disease of platelets. GT is characterized by mucocutaneous bleeding of mild-to-moderate severity and the inability of this integrin to recognize macromolecular or synthetic peptide ligands.
}}

{{omim
|id=607759
|rsnum=5911
|variant=0004
}}

{{ClinVar
|rsid=5911
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=42453065
|CHROM=17
|GMAF=0.4043
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05036000000017051f110100
|GENEINFO=ITGA2B:3674
|GENE_NAME=ITGA2B
|GENE_ID=3674
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.42453065A>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.5955; 0.4045
|CLNACC=RCV000003025.1
|CLNDBN=Bak platelet-specific antigen
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607759.0004
|COMMON=1
|Disease=Bak platelet-specific antigen
}}

{{GET Evidence
|gene=ITGA2B
|aa_change=Ile874Ser
|aa_change_short=I874S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5911
|overall_frequency_n=4070
|overall_frequency_d=10720
|overall_frequency=0.379664
|n_genomes=35
|n_genomes_annotated=0
|n_haplomes=48
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=5
|autoscore=2
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}