rs121908424

Orientation

plus

Stabilized

plus

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

Make rs121908424(C;T)

Make rs121908424(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

5808274

Gene

EVC

is a	snp
is	mentioned by
dbSNP	rs121908424
dbSNP (classic)	rs121908424
ClinGen	rs121908424
ebi	rs121908424
HLI	rs121908424
Exac	rs121908424
Gnomad	rs121908424
Varsome	rs121908424
LitVar	rs121908424
Map	rs121908424
PheGenI	rs121908424
Biobank	rs121908424
1000 genomes	rs121908424
hgdp	rs121908424
ensembl	rs121908424
geneview	rs121908424
scholar	rs121908424
google	rs121908424
pharmgkb	rs121908424
gwascentral	rs121908424
openSNP	rs121908424
23andMe	rs121908424
SNPshot	rs121908424
SNPdbe	rs121908424
MSV3d	rs121908424
GWAS Ctlg	rs121908424

Max Magnitude

0

OMIM	604831
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908424(T;T)
Alt	rs121908424(T;T)
Reference	Rs121908424(C;C)
Significance	Pathogenic
Disease	Chondroectodermal dysplasia
Variation	info
Gene	EVC
CLNDBN	Chondroectodermal dysplasia
Reversed	0
HGVS	NC_000004.11:g.5810001C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005667.3,