{{Rsnum
|rsid=1057744
|Gene=JAG2
|Chromosome=14
|position=105150705
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4601
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=JAG2,MIR6765
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 25.9 | 55.4 | 18.8
| HCB | 16.9 | 39.0 | 44.1
| JPT | 13.5 | 49.5 | 36.9
| YRI | 68.7 | 31.3 | 0.0
| ASW | 66.7 | 28.1 | 5.3
| CHB | 16.9 | 39.0 | 44.1
| CHD | 11.9 | 45.9 | 42.2
| GIH | 12.0 | 53.0 | 35.0
| LWK | 55.6 | 39.8 | 4.6
| MEX | 22.8 | 40.4 | 36.8
| MKK | 46.8 | 42.9 | 10.3
| TSI | 34.3 | 47.1 | 18.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=1057744
|allele=T
|frequency=0.5
|uid=1103649153753
|type=homozygous_SNP
|hugo=JAG2
|ensembl gene=ENSG00000184916
|ensembl transcript=ENST00000331782
|sift=TOLERATED
|disease=May be associated with Usher syndrome type IA (USHA1A) which describes a congenital sensory deafness associated with retinitis pigmentosa and feeble-mindedness.
}}

{{GET Evidence
|gene=JAG2
|aa_change=Glu463Lys
|aa_change_short=E463K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1057744
|overall_frequency_n=6371
|overall_frequency_d=10364
|overall_frequency=0.614724
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=81
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23524414
|Title=Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.
|OA=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}}