{{Rsnum
|rsid=2302075
|Gene=EVC
|Chromosome=4
|position=5753815
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.1662
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=EVC
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 5.4 | 28.6 | 66.1
| HCB | 2.9 | 29.4 | 67.6
| JPT | 4.4 | 28.3 | 67.3
| YRI | 0.0 | 2.0 | 98.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.9 | 29.4 | 67.6
| CHD | 1.8 | 27.5 | 70.6
| GIH | 1.0 | 25.7 | 73.3
| LWK | 0.0 | 2.7 | 97.3
| MEX | 6.9 | 39.7 | 53.4
| MKK | 0.6 | 8.3 | 91.0
| TSI | 5.9 | 33.3 | 60.8
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2302075
|allele=A
|frequency=0.8
|uid=1103654324017
|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
}}

{{GET Evidence
|gene=EVC
|aa_change=Thr449Lys
|aa_change_short=T449K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2302075
|overall_frequency_n=9168
|overall_frequency_d=10758
|overall_frequency=0.852203
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=91
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=2
|n_web_uneval=2
}}

{{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}}