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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
dbSNP (old)rs4689278
ClinGenrs4689278
ebirs4689278
HLIrs4689278
Exacrs4689278
Gnomadrs4689278
Varsomers4689278
Maprs4689278
PheGenIrs4689278
Biobankrs4689278
1000 genomesrs4689278
hgdprs4689278
ensemblrs4689278
gopubmedrs4689278
geneviewrs4689278
scholarrs4689278
googlers4689278
pharmgkbrs4689278
gwascentralrs4689278
openSNPrs4689278
23andMers4689278
23andMe allrs4689278
SNPshotrs4689278
SNPdbers4689278
MSV3drs4689278
GWAS Ctlgrs4689278
GMAF0.2374
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 18947413OA-icon.png] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.



ClinVar
Risk rs4689278(C;C)
Alt rs4689278(C;C)
Reference Rs4689278(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.5690902T>C
CLNSRC
CLNACC RCV000243950.2, RCV000294615.1,