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rs6414624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs6414624(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5741785
GeneEVC
is asnp
is mentioned by
dbSNPrs6414624
ebirs6414624
HLIrs6414624
Exacrs6414624
Varsomers6414624
Maprs6414624
PheGenIrs6414624
hapmaprs6414624
1000 genomesrs6414624
hgdprs6414624
ensemblrs6414624
gopubmedrs6414624
geneviewrs6414624
scholarrs6414624
googlers6414624
pharmgkbrs6414624
gwascentralrs6414624
openSNPrs6414624
23andMers6414624
23andMe allrs6414624
SNP Nexus

SNPshotrs6414624
SNPdbers6414624
MSV3drs6414624
GWAS Ctlgrs6414624
GMAF0.2264
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene EVC
allele C
frequency 0.775
sift TOLERATED
HuRef 1103654323967
Disease Association 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 18947413OA-icon.png] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.


[PMID 20184732OA-icon.png] Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.


GET Evidence
EVC-Y258H
aa_change Tyr258His
aa_change_short Y258H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.705937
summary



ClinVar
Risk rs6414624(C;C)
Alt rs6414624(C;C)
Reference rs6414624(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene EVC
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.5743512T>C
CLNSRC
CLNACC RCV000179558.1,