rs750396637

Orientation

plus

Stabilized

plus

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

Make rs750396637(-;-)

Make rs750396637(-;GGCCCCG)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

5568590

Gene

EVC2

is a	snp
is	mentioned by
dbSNP	rs750396637
dbSNP (classic)	rs750396637
ClinGen	rs750396637
ebi	rs750396637
HLI	rs750396637
Exac	rs750396637
Gnomad	rs750396637
Varsome	rs750396637
LitVar	rs750396637
Map	rs750396637
PheGenI	rs750396637
Biobank	rs750396637
1000 genomes	rs750396637
hgdp	rs750396637
ensembl	rs750396637
geneview	rs750396637
scholar	rs750396637
google	rs750396637
pharmgkb	rs750396637
gwascentral	rs750396637
openSNP	rs750396637
23andMe	rs750396637
SNPshot	rs750396637
SNPdbe	rs750396637
MSV3d	rs750396637
GWAS Ctlg	rs750396637

Max Magnitude

0

ClinVar
Risk	rs750396637(-;-)
Alt	rs750396637(-;-)
Reference	Rs750396637(GGCCCCG;GGCCCCG)
Significance	Pathogenic
Disease	Chondroectodermal dysplasia
Variation	info
Gene	EVC2
CLNDBN	Chondroectodermal dysplasia
Reversed	0
HGVS	NC_000004.11:g.5570317_5570323delGGCCCCG
CLNSRC
CLNACC	RCV000176128.1,