rs137854455

Orientation

plus

Stabilized

plus

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

Make rs137854455(A;T)

Make rs137854455(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74045278

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs137854455
dbSNP (classic)	rs137854455
ClinGen	rs137854455
ebi	rs137854455
HLI	rs137854455
Exac	rs137854455
Gnomad	rs137854455
Varsome	rs137854455
LitVar	rs137854455
Map	rs137854455
PheGenI	rs137854455
Biobank	rs137854455
1000 genomes	rs137854455
hgdp	rs137854455
ensembl	rs137854455
geneview	rs137854455
scholar	rs137854455
google	rs137854455
pharmgkb	rs137854455
gwascentral	rs137854455
openSNP	rs137854455
23andMe	rs137854455
SNPshot	rs137854455
SNPdbe	rs137854455
MSV3d	rs137854455
GWAS Ctlg	rs137854455

Max Magnitude

0

OMIM	130160
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137854455(T;T)
Alt	rs137854455(T;T)
Reference	Rs137854455(A;A)
Significance	Pathogenic
Disease	Supravalvar aortic stenosis
Variation	info
Gene	ELN
CLNDBN	Supravalvar aortic stenosis
Reversed	0
HGVS	NC_000007.13:g.73459608A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018216.27,