rs137852928

Orientation

minus

Stabilized

minus

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

Make rs137852928(C;T)

Make rs137852928(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5584832

Gene

EVC2

is a	snp
is	mentioned by
dbSNP	rs137852928
dbSNP (classic)	rs137852928
ClinGen	rs137852928
ebi	rs137852928
HLI	rs137852928
Exac	rs137852928
Gnomad	rs137852928
Varsome	rs137852928
LitVar	rs137852928
Map	rs137852928
PheGenI	rs137852928
Biobank	rs137852928
1000 genomes	rs137852928
hgdp	rs137852928
ensembl	rs137852928
geneview	rs137852928
scholar	rs137852928
google	rs137852928
pharmgkb	rs137852928
gwascentral	rs137852928
openSNP	rs137852928
23andMe	rs137852928
SNPshot	rs137852928
SNPdbe	rs137852928
MSV3d	rs137852928
GWAS Ctlg	rs137852928

Max Magnitude

0

OMIM	607261
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852928(A;A) rs137852928(T;T)
Alt	rs137852928(A;A) rs137852928(T;T)
Reference	Rs137852928(C;C)
Significance	Pathogenic
Disease	Chondroectodermal dysplasia
Variation	info
Gene	EVC2
CLNDBN	Chondroectodermal dysplasia
Reversed	1
HGVS	NC_000004.11:g.5586559G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003554.5,