{{Rsnum
|rsid=1383180
|Gene=EVC
|Chromosome=4
|position=5783715
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3361
|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 | 41.6 | 47.8 | 10.6
| HCB | 45.3 | 43.8 | 10.9
| JPT | 48.7 | 44.2 | 7.1
| YRI | 74.1 | 21.8 | 4.1
| ASW | 52.6 | 38.6 | 8.8
| CHB | 45.3 | 43.8 | 10.9
| CHD | 49.1 | 42.6 | 8.3
| GIH | 63.4 | 32.7 | 4.0
| LWK | 67.0 | 33.0 | 0.0
| MEX | 19.0 | 50.0 | 31.0
| MKK | 68.6 | 30.8 | 0.6
| TSI | 36.3 | 44.1 | 19.6
| HapMapRevision=28
}}
{{PMID|19115052}} male suicidal behavior [[rs1383180]]
{{Venter SNP
|rsid=1383180
|allele=A
|frequency=0.325
|uid=1103654324185
|type=heterozygous_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=Arg576Gln
|aa_change_short=R576Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1383180
|overall_frequency_n=3320
|overall_frequency_d=10758
|overall_frequency=0.308608
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=33
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.998
|genetests_testable=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=1
}}

{{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}}