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rs4689278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs4689278(C;C)
Make rs4689278(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5689175
GeneEVC2
is asnp
is mentioned by
dbSNPrs4689278
ebirs4689278
HLIrs4689278
Exacrs4689278
Varsomers4689278
Maprs4689278
PheGenIrs4689278
hapmaprs4689278
1000 genomesrs4689278
hgdprs4689278
ensemblrs4689278
gopubmedrs4689278
geneviewrs4689278
scholarrs4689278
googlers4689278
pharmgkbrs4689278
gwascentralrs4689278
openSNPrs4689278
23andMers4689278
23andMe allrs4689278
SNP Nexus

SNPshotrs4689278
SNPdbers4689278
MSV3drs4689278
GWAS Ctlgrs4689278
GMAF0.2374
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene EVC2
allele C
frequency 0.242
sift TOLERATED
HuRef 1103654323786
Disease Association 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.



[PMID 18947413OA-icon.png] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.


GET Evidence
EVC2-S230G
aa_change Ser230Gly
aa_change_short S230G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.213051
summary