{{Rsnum
|rsid=2272495
|Gene=APPL2
|Chromosome=12
|position=105190099
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1915
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=APPL2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 65.5 | 28.3 | 6.2
| HCB | 54.0 | 39.4 | 6.6
| JPT | 62.8 | 32.7 | 4.4
| YRI | 80.3 | 18.4 | 1.4
| ASW | 68.4 | 28.1 | 3.5
| CHB | 54.0 | 39.4 | 6.6
| CHD | 59.6 | 31.2 | 9.2
| GIH | 64.4 | 33.7 | 2.0
| LWK | 87.3 | 11.8 | 0.9
| MEX | 63.8 | 32.8 | 3.4
| MKK | 75.0 | 21.8 | 3.2
| TSI | 70.6 | 27.5 | 2.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2272495
|allele=A
|frequency=0.175
|uid=1103649529508
|type=heterozygous_SNP
|hugo=DP13B_HUMAN
|ensembl gene=ENSG00000136044
|ensembl transcript=ENST00000258530
|sift=TOLERATED
|disease=A chromosomal aberration involving DIP13B/APPL2 is a cause of the chromosome 22q13.3 deletion syndrome (MIM:606232). Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2.
}}

{{GET Evidence
|gene=APPL2
|aa_change=Ala433Val
|aa_change_short=A433V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2272495
|overall_frequency_n=1788
|overall_frequency_d=10756
|overall_frequency=0.166233
|n_genomes=22
|n_genomes_annotated=0
|n_haplomes=27
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.001
|nblosum100=2
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}