rs146538906

Orientation

plus

Stabilized

plus

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

Make rs146538906(A;A)

Make rs146538906(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

5618531

Gene

EVC2

is a	snp
is	mentioned by
dbSNP	rs146538906
dbSNP (classic)	rs146538906
ClinGen	rs146538906
ebi	rs146538906
HLI	rs146538906
Exac	rs146538906
Gnomad	rs146538906
Varsome	rs146538906
LitVar	rs146538906
Map	rs146538906
PheGenI	rs146538906
Biobank	rs146538906
1000 genomes	rs146538906
hgdp	rs146538906
ensembl	rs146538906
geneview	rs146538906
scholar	rs146538906
google	rs146538906
pharmgkb	rs146538906
gwascentral	rs146538906
openSNP	rs146538906
23andMe	rs146538906
SNPshot	rs146538906
SNPdbe	rs146538906
MSV3d	rs146538906
GWAS Ctlg	rs146538906

Max Magnitude

0

ClinVar
Risk	rs146538906(A;A)
Alt	rs146538906(A;A)
Reference	Rs146538906(G;G)
Significance	Pathogenic
Disease	Chondroectodermal dysplasia
Variation	info
Gene	EVC2
CLNDBN	Chondroectodermal dysplasia
Reversed	0
HGVS	NC_000004.11:g.5620258G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023642.4,