rs4689278

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in complete genomics

Make rs4689278(C;C)

Make rs4689278(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5689175

Gene

EVC2

is a	snp
is	mentioned by
dbSNP	rs4689278
dbSNP (classic)	rs4689278
ClinGen	rs4689278
ebi	rs4689278
HLI	rs4689278
Exac	rs4689278
Gnomad	rs4689278
Varsome	rs4689278
LitVar	rs4689278
Map	rs4689278
PheGenI	rs4689278
Biobank	rs4689278
1000 genomes	rs4689278
hgdp	rs4689278
ensembl	rs4689278
geneview	rs4689278
scholar	rs4689278
google	rs4689278
pharmgkb	rs4689278
gwascentral	rs4689278
openSNP	rs4689278
23andMe	rs4689278
SNPshot	rs4689278
SNPdbe	rs4689278
MSV3d	rs4689278
GWAS Ctlg	rs4689278

GMAF

0.2374

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 18947413] 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,