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rs2302075

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(G;G) 0 common in clinvar
Make rs2302075(G;T)
Make rs2302075(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5753815
GeneEVC
is asnp
is mentioned by
dbSNPrs2302075
ebirs2302075
HLIrs2302075
Exacrs2302075
Varsomers2302075
Maprs2302075
PheGenIrs2302075
hapmaprs2302075
1000 genomesrs2302075
hgdprs2302075
ensemblrs2302075
gopubmedrs2302075
geneviewrs2302075
scholarrs2302075
googlers2302075
pharmgkbrs2302075
gwascentralrs2302075
openSNPrs2302075
23andMers2302075
23andMe allrs2302075
SNP Nexus

SNPshotrs2302075
SNPdbers2302075
MSV3drs2302075
GWAS Ctlgrs2302075
GMAF0.1662
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene EVC
allele A
frequency 0.8
sift TOLERATED
HuRef 1103654324017
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.


GET Evidence
EVC-T449K
aa_change Thr449Lys
aa_change_short T449K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.852203
summary



ClinVar
Risk rs2302075(A,T;A,T)
Alt rs2302075(A,T;A,T)
Reference rs2302075(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene EVC
CLNDBN not specified
Reversed 1
HGVS NC_000004.11:g.5755542C>A
CLNSRC
CLNACC RCV000153204.3,



[PMID 26251756OA-icon.png] EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study