{{Rsnum
|rsid=7481951
|Gene=ANO5
|Chromosome=11
|position=22250324
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.3489
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=ANO5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 14.2 | 51.3 | 34.5
| HCB | 64.2 | 29.2 | 6.6
| JPT | 67.0 | 30.4 | 2.7
| YRI | 80.3 | 19.7 | 0.0
| ASW | 67.9 | 30.4 | 1.8
| CHB | 64.2 | 29.2 | 6.6
| CHD | 72.5 | 22.9 | 4.6
| GIH | 20.8 | 49.5 | 29.7
| LWK | 81.7 | 17.4 | 0.9
| MEX | 39.7 | 46.6 | 13.8
| MKK | 73.1 | 23.1 | 3.8
| TSI | 13.7 | 52.0 | 34.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=7481951
|allele=T
|frequency=0.617
|uid=1103649629510
|type=homozygous_SNP
|hugo=TMEM16E
|ensembl gene=ENSG00000171714
|ensembl transcript=ENST00000324559
|sift=TOLERATED
|disease=Defects in TMEM16E are the cause of gnathodiaphyseal dysplasia (GDD) (MIM:166260); also called osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures healed normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.
}}

{{ClinVar
|rsid=7481951
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=22271870
|CHROM=11
|GMAF=0.3489
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x05016000000017051f100100
|GENEINFO=ANO5:203859
|GENE_NAME=ANO5
|GENE_ID=203859
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.22271870A>T
|CLNORIGIN=0
|CLNSIG=2
|Tags=PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.6511; 0.3489
|COMMON=1
|CLNACC=RCV000082855.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNSRC=Emory University
|CLNSRCID=5927
|Disease=AllHighlyPenetrant
}}

{{GET Evidence
|gene=ANO5
|aa_change=Leu322Phe
|aa_change_short=L322F
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7481951
|overall_frequency_n=4805
|overall_frequency_d=10756
|overall_frequency=0.446727
|n_genomes=35
|n_genomes_annotated=0
|n_haplomes=44
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.008
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}