rs397516433

Orientation

plus

Stabilized

plus

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

Make rs397516433(C;G)

Make rs397516433(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74051747

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs397516433
dbSNP (classic)	rs397516433
ClinGen	rs397516433
ebi	rs397516433
HLI	rs397516433
Exac	rs397516433
Gnomad	rs397516433
Varsome	rs397516433
LitVar	rs397516433
Map	rs397516433
PheGenI	rs397516433
Biobank	rs397516433
1000 genomes	rs397516433
hgdp	rs397516433
ensembl	rs397516433
geneview	rs397516433
scholar	rs397516433
google	rs397516433
pharmgkb	rs397516433
gwascentral	rs397516433
openSNP	rs397516433
23andMe	rs397516433
SNPshot	rs397516433
SNPdbe	rs397516433
MSV3d	rs397516433
GWAS Ctlg	rs397516433

Max Magnitude

0

ClinVar
Risk	rs397516433(G;G)
Alt	rs397516433(G;G)
Reference	Rs397516433(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.73466077C>G
CLNSRC	ClinVar
CLNACC	RCV000036528.2, RCV000199556.1,