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rs730469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs730469(C;C)
Make rs730469(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position5622943
GeneEVC2
is asnp
is mentioned by
dbSNPrs730469
ClinGenrs730469
ebirs730469
HLIrs730469
Exacrs730469
Varsomers730469
Maprs730469
PheGenIrs730469
hapmaprs730469
1000 genomesrs730469
hgdprs730469
ensemblrs730469
gopubmedrs730469
geneviewrs730469
scholarrs730469
googlers730469
pharmgkbrs730469
gwascentralrs730469
openSNPrs730469
23andMers730469
23andMe allrs730469
SNP Nexus

SNPshotrs730469
SNPdbers730469
MSV3drs730469
GWAS Ctlgrs730469
GMAF0.4972
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene EVC2
allele C
frequency 0.3
sift TOLERATED
HuRef 1103654323623
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.



GET Evidence
EVC2-T619A
aa_change Thr619Ala
aa_change_short T619A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs730469(C;C)
Alt rs730469(C;C)
Reference Rs730469(T;T)
Significance Non-pathogenic
Disease not specified Ellis-van Creveld Syndrome
Variation info
Gene EVC2
CLNDBN not specified Ellis-van Creveld Syndrome
Reversed 0
HGVS NC_000004.11:g.5624670T>C
CLNSRC
CLNACC RCV000250571.2, RCV000349643.1,