{{Rsnum
|rsid=730469
|Gene=EVC2
|Chromosome=4
|position=5622943
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4972
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EVC2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 8.0 | 38.9 | 53.1
| HCB | 40.9 | 46.0 | 13.1
| JPT | 31.0 | 42.5 | 26.5
| YRI | 81.5 | 18.5 | 0.0
| ASW | 61.4 | 31.6 | 7.0
| CHB | 40.9 | 46.0 | 13.1
| CHD | 43.1 | 42.2 | 14.7
| GIH | 9.9 | 26.7 | 63.4
| LWK | 70.9 | 27.3 | 1.8
| MEX | 19.0 | 46.6 | 34.5
| MKK | 52.9 | 39.4 | 7.7
| TSI | 4.9 | 42.2 | 52.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=730469
|allele=C
|frequency=0.3
|uid=1103654323623
|type=heterozygous_SNP
|hugo=EVC2
|ensembl gene=ENSG00000173040
|ensembl transcript=ENST00000344408
|sift=TOLERATED
|disease=Defects in EVC2 are a cause of Ellis-van Creveld syndrome (MIM:225500). Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. In addition to the chondroectodermal phenotype, congenital heart defects, most commonly an atrio-ventricular septal defect, are observed in 60% of affected individuals.
}}

{{GET Evidence
|gene=EVC2
|aa_change=Thr619Ala
|aa_change_short=T619A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs730469
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=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}}