rs727504419

Orientation

plus

Stabilized

plus

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

Make rs727504419(C;C)

Make rs727504419(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

74051841

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs727504419
dbSNP (classic)	rs727504419
ClinGen	rs727504419
ebi	rs727504419
HLI	rs727504419
Exac	rs727504419
Gnomad	rs727504419
Varsome	rs727504419
LitVar	rs727504419
Map	rs727504419
PheGenI	rs727504419
Biobank	rs727504419
1000 genomes	rs727504419
hgdp	rs727504419
ensembl	rs727504419
geneview	rs727504419
scholar	rs727504419
google	rs727504419
pharmgkb	rs727504419
gwascentral	rs727504419
openSNP	rs727504419
23andMe	rs727504419
SNPshot	rs727504419
SNPdbe	rs727504419
MSV3d	rs727504419
GWAS Ctlg	rs727504419

Max Magnitude

0

ClinVar
Risk	rs727504419(C;C)
Alt	rs727504419(C;C)
Reference	Rs727504419(T;T)
Significance	Pathogenic
Disease	Supravalvar aortic stenosis
Variation	info
Gene	ELN
CLNDBN	Supravalvar aortic stenosis
Reversed	0
HGVS	NC_000007.13:g.73466171T>C
CLNSRC
CLNACC	RCV000154614.1,