rs137852925

Orientation

minus

Stabilized

minus

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

Make rs137852925(C;T)

Make rs137852925(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5628590

Gene

EVC2

is a	snp
is	mentioned by
dbSNP	rs137852925
dbSNP (classic)	rs137852925
ClinGen	rs137852925
ebi	rs137852925
HLI	rs137852925
Exac	rs137852925
Gnomad	rs137852925
Varsome	rs137852925
LitVar	rs137852925
Map	rs137852925
PheGenI	rs137852925
Biobank	rs137852925
1000 genomes	rs137852925
hgdp	rs137852925
ensembl	rs137852925
geneview	rs137852925
scholar	rs137852925
google	rs137852925
pharmgkb	rs137852925
gwascentral	rs137852925
openSNP	rs137852925
23andMe	rs137852925
SNPshot	rs137852925
SNPdbe	rs137852925
MSV3d	rs137852925
GWAS Ctlg	rs137852925

Max Magnitude

0

OMIM	607261
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852925(T;T)
Alt	rs137852925(T;T)
Reference	Rs137852925(C;C)
Significance	Pathogenic
Disease	Chondroectodermal dysplasia
Variation	info
Gene	EVC2
CLNDBN	Chondroectodermal dysplasia
Reversed	1
HGVS	NC_000004.11:g.5630317G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003551.3,