rs137854452

Orientation

plus

Stabilized

plus

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

Make rs137854452(C;T)

Make rs137854452(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74056680

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs137854452
dbSNP (classic)	rs137854452
ClinGen	rs137854452
ebi	rs137854452
HLI	rs137854452
Exac	rs137854452
Gnomad	rs137854452
Varsome	rs137854452
LitVar	rs137854452
Map	rs137854452
PheGenI	rs137854452
Biobank	rs137854452
1000 genomes	rs137854452
hgdp	rs137854452
ensembl	rs137854452
geneview	rs137854452
scholar	rs137854452
google	rs137854452
pharmgkb	rs137854452
gwascentral	rs137854452
openSNP	rs137854452
23andMe	rs137854452
SNPshot	rs137854452
SNPdbe	rs137854452
MSV3d	rs137854452
GWAS Ctlg	rs137854452

Max Magnitude

0

OMIM	130160
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137854452(T;T)
Alt	rs137854452(T;T)
Reference	Rs137854452(C;C)
Significance	Pathogenic
Disease	Supravalvar aortic stenosis not provided
Variation	info
Gene	ELN
CLNDBN	Supravalvar aortic stenosis not provided
Reversed	0
HGVS	NC_000007.13:g.73471010C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018206.28, RCV000255419.1,