{{Rsnum
|rsid=11895564
|Gene=ITGA6
|Chromosome=2
|position=172475080
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2383
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ITGA6,LOC101926931
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 7.1 | 45.1 | 47.8
| HCB | 0.7 | 12.5 | 86.8
| JPT | 2.7 | 19.5 | 77.9
| YRI | 13.6 | 43.5 | 42.9
| ASW | 5.3 | 40.4 | 54.4
| CHB | 0.7 | 12.5 | 86.8
| CHD | 0.0 | 20.4 | 79.6
| GIH | 8.9 | 32.7 | 58.4
| LWK | 10.0 | 40.9 | 49.1
| MEX | 10.3 | 34.5 | 55.2
| MKK | 15.4 | 34.0 | 50.6
| TSI | 10.8 | 41.2 | 48.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=11895564
|allele=A
|frequency=0.25
|uid=1103658290695
|type=heterozygous_SNP
|hugo=ITGA6
|ensembl gene=ENSG00000091409
|ensembl transcript=ENST00000264107
|sift=TOLERATED
|disease=Defects in ITGA6 are a cause of epidermolysis bullosa with pyloric atresia (EB-PA) (MIM:226730); also known as aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive disease characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus.
}}

{{PMID Auto
|PMID=22148122
|Title=A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population
|OA=1
}}

{{GET Evidence
|gene=ITGA6
|aa_change=Ala380Thr
|aa_change_short=A380T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11895564
|overall_frequency_n=3398
|overall_frequency_d=10758
|overall_frequency=0.315858
|n_genomes=37
|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=1
|autoscore=2
|webscore=N
}}

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