rs6414624

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0
(T;T)	0	common in clinvar

Make rs6414624(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5741785

Gene

EVC

is a	snp
is	mentioned by
dbSNP	rs6414624
dbSNP (classic)	rs6414624
ClinGen	rs6414624
ebi	rs6414624
HLI	rs6414624
Exac	rs6414624
Gnomad	rs6414624
Varsome	rs6414624
LitVar	rs6414624
Map	rs6414624
PheGenI	rs6414624
Biobank	rs6414624
1000 genomes	rs6414624
hgdp	rs6414624
ensembl	rs6414624
geneview	rs6414624
scholar	rs6414624
google	rs6414624
pharmgkb	rs6414624
gwascentral	rs6414624
openSNP	rs6414624
23andMe	rs6414624
SNPshot	rs6414624
SNPdbe	rs6414624
MSV3d	rs6414624
GWAS Ctlg	rs6414624

GMAF

0.2264

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.

[PMID 20184732] Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

ClinVar
Risk	Rs6414624(C;C)
Alt	Rs6414624(C;C)
Reference	Rs6414624(T;T)
Significance	Non-pathogenic
Disease	not specified Ellis-van Creveld Syndrome Curry-Hall syndrome
Variation	info
Gene	EVC
CLNDBN	not specified Ellis-van Creveld Syndrome Curry-Hall syndrome
Reversed	0
HGVS	NC_000004.11:g.5743512T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000179558.3, RCV000297646.1, RCV000400923.1,