rs201012726

Orientation

plus

Stabilized

plus

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

Make rs201012726(C;T)

Make rs201012726(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

74047690

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs201012726
dbSNP (classic)	rs201012726
ClinGen	rs201012726
ebi	rs201012726
HLI	rs201012726
Exac	rs201012726
Gnomad	rs201012726
Varsome	rs201012726
LitVar	rs201012726
Map	rs201012726
PheGenI	rs201012726
Biobank	rs201012726
1000 genomes	rs201012726
hgdp	rs201012726
ensembl	rs201012726
geneview	rs201012726
scholar	rs201012726
google	rs201012726
pharmgkb	rs201012726
gwascentral	rs201012726
openSNP	rs201012726
23andMe	rs201012726
SNPshot	rs201012726
SNPdbe	rs201012726
MSV3d	rs201012726
GWAS Ctlg	rs201012726

Max Magnitude

0

ClinVar
Risk	rs201012726(T;T)
Alt	rs201012726(T;T)
Reference	Rs201012726(C;C)
Significance	Probable-Pathogenic
Disease	not provided Cutis laxa Supravalvular aortic stenosis
Variation	info
Gene	ELN
CLNDBN	not provided Cutis laxa, autosomal dominant Supravalvular aortic stenosis
Reversed	0
HGVS	NC_000007.13:g.73462020C>T
CLNSRC
CLNACC	RCV000198008.2, RCV000279620.1, RCV000334634.1,