rs137854453

Orientation

plus

Stabilized

plus

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

Make rs137854453(C;T)

Make rs137854453(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74060184

Gene	ELN, LOC107986809

is a	snp
is	mentioned by
dbSNP	rs137854453
dbSNP (classic)	rs137854453
ClinGen	rs137854453
ebi	rs137854453
HLI	rs137854453
Exac	rs137854453
Gnomad	rs137854453
Varsome	rs137854453
LitVar	rs137854453
Map	rs137854453
PheGenI	rs137854453
Biobank	rs137854453
1000 genomes	rs137854453
hgdp	rs137854453
ensembl	rs137854453
geneview	rs137854453
scholar	rs137854453
google	rs137854453
pharmgkb	rs137854453
gwascentral	rs137854453
openSNP	rs137854453
23andMe	rs137854453
SNPshot	rs137854453
SNPdbe	rs137854453
MSV3d	rs137854453
GWAS Ctlg	rs137854453

Max Magnitude

0

OMIM	130160
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137854453(G;G) rs137854453(T;T)
Alt	rs137854453(G;G) rs137854453(T;T)
Reference	Rs137854453(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.73474514C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018207.27, RCV000198624.3,