{{Rsnum
|rsid=6414624
|Gene=EVC
|Chromosome=4
|position=5741785
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.2264
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=EVC
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 61.6 | 34.8 | 3.6
| HCB | 78.2 | 20.3 | 1.5
| JPT | 82.3 | 16.8 | 0.9
| YRI | 25.3 | 47.9 | 26.7
| ASW | 24.6 | 64.9 | 10.5
| CHB | 78.2 | 20.3 | 1.5
| CHD | 83.3 | 15.7 | 0.9
| GIH | 63.4 | 32.7 | 4.0
| LWK | 23.9 | 52.3 | 23.9
| MEX | 74.1 | 22.4 | 3.4
| MKK | 25.0 | 57.1 | 17.9
| TSI | 60.4 | 34.7 | 5.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=6414624
|allele=C
|frequency=0.775
|uid=1103654323967
|type=homozygous_SNP
|hugo=EVC
|ensembl gene=ENSG00000072840
|ensembl transcript=ENST00000264956
|sift=TOLERATED
|disease=Defects in EVC are the cause of Weyers acrodental dysostosis (WAD) (MIM:193530). WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome.
}}

{{PMID Auto
|PMID=18947413
|Title=Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
|OA=1
}}

{{PMID Auto
|PMID=20184732
|Title=Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
|OA=1
}}

{{GET Evidence
|gene=EVC
|aa_change=Tyr258His
|aa_change_short=Y258H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6414624
|overall_frequency_n=7586
|overall_frequency_d=10746
|overall_frequency=0.705937
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=82
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.985
|genetests_testable=Y
|nblosum100=-1
|autoscore=3
|n_web_uneval=4
}}

{{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}}