rs137854454

Orientation

plus

Stabilized

plus

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

Make rs137854454(C;G)

Make rs137854454(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74043901

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs137854454
dbSNP (classic)	rs137854454
ClinGen	rs137854454
ebi	rs137854454
HLI	rs137854454
Exac	rs137854454
Gnomad	rs137854454
Varsome	rs137854454
LitVar	rs137854454
Map	rs137854454
PheGenI	rs137854454
Biobank	rs137854454
1000 genomes	rs137854454
hgdp	rs137854454
ensembl	rs137854454
geneview	rs137854454
scholar	rs137854454
google	rs137854454
pharmgkb	rs137854454
gwascentral	rs137854454
openSNP	rs137854454
23andMe	rs137854454
SNPshot	rs137854454
SNPdbe	rs137854454
MSV3d	rs137854454
GWAS Ctlg	rs137854454

Max Magnitude

0

OMIM	130160
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137854454(A;A) rs137854454(G;G)
Alt	rs137854454(A;A) rs137854454(G;G)
Reference	Rs137854454(C;C)
Significance	Pathogenic
Disease	not provided Supravalvar aortic stenosis
Variation	info
Gene	ELN
CLNDBN	not provided Supravalvar aortic stenosis
Reversed	0
HGVS	NC_000007.13:g.73458231C>A; NC_000007.13:g.73458231C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000255722.1, RCV000018215.27,