rs137852926

Orientation

minus

Stabilized

minus

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

Make rs137852926(G;G)

Make rs137852926(G;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5681282

Gene

EVC2

is a	snp
is	mentioned by
dbSNP	rs137852926
dbSNP (classic)	rs137852926
ClinGen	rs137852926
ebi	rs137852926
HLI	rs137852926
Exac	rs137852926
Gnomad	rs137852926
Varsome	rs137852926
LitVar	rs137852926
Map	rs137852926
PheGenI	rs137852926
Biobank	rs137852926
1000 genomes	rs137852926
hgdp	rs137852926
ensembl	rs137852926
geneview	rs137852926
scholar	rs137852926
google	rs137852926
pharmgkb	rs137852926
gwascentral	rs137852926
openSNP	rs137852926
23andMe	rs137852926
SNPshot	rs137852926
SNPdbe	rs137852926
MSV3d	rs137852926
GWAS Ctlg	rs137852926

Max Magnitude

0

OMIM	607261
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852926(G;G)
Alt	rs137852926(G;G)
Reference	Rs137852926(T;T)
Significance	Pathogenic
Disease	Chondroectodermal dysplasia
Variation	info
Gene	EVC2
CLNDBN	Chondroectodermal dysplasia
Reversed	1
HGVS	NC_000004.11:g.5683009A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003552.3,