rs121908426

Orientation

plus

Stabilized

plus

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

Make rs121908426(C;C)

Make rs121908426(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5745321

Gene

EVC

is a	snp
is	mentioned by
dbSNP	rs121908426
dbSNP (classic)	rs121908426
ClinGen	rs121908426
ebi	rs121908426
HLI	rs121908426
Exac	rs121908426
Gnomad	rs121908426
Varsome	rs121908426
LitVar	rs121908426
Map	rs121908426
PheGenI	rs121908426
Biobank	rs121908426
1000 genomes	rs121908426
hgdp	rs121908426
ensembl	rs121908426
geneview	rs121908426
scholar	rs121908426
google	rs121908426
pharmgkb	rs121908426
gwascentral	rs121908426
openSNP	rs121908426
23andMe	rs121908426
SNPshot	rs121908426
SNPdbe	rs121908426
MSV3d	rs121908426
GWAS Ctlg	rs121908426

Max Magnitude

0

OMIM	604831
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908426(C;C)
Alt	rs121908426(C;C)
Reference	Rs121908426(T;T)
Significance	Pathogenic
Disease	Curry-Hall syndrome Chondroectodermal dysplasia
Variation	info
Gene	EVC
CLNDBN	Curry-Hall syndrome Chondroectodermal dysplasia
Reversed	0
HGVS	NC_000004.11:g.5747048T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005671.7, RCV000005672.2,