rs794729201

Orientation

plus

Stabilized

plus

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

Make rs794729201(-;-)

Make rs794729201(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

74068685

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs794729201
dbSNP (classic)	rs794729201
ClinGen	rs794729201
ebi	rs794729201
HLI	rs794729201
Exac	rs794729201
Gnomad	rs794729201
Varsome	rs794729201
LitVar	rs794729201
Map	rs794729201
PheGenI	rs794729201
Biobank	rs794729201
1000 genomes	rs794729201
hgdp	rs794729201
ensembl	rs794729201
geneview	rs794729201
scholar	rs794729201
google	rs794729201
pharmgkb	rs794729201
gwascentral	rs794729201
openSNP	rs794729201
23andMe	rs794729201
SNPshot	rs794729201
SNPdbe	rs794729201
MSV3d	rs794729201
GWAS Ctlg	rs794729201

Max Magnitude

0

ClinVar
Risk	rs794729201(-;-)
Alt	rs794729201(-;-)
Reference	Rs794729201(C;C)
Significance	Probable-Pathogenic
Disease	Cutis laxa
Variation	info
Gene	ELN
CLNDBN	Cutis laxa, autosomal dominant 1
Reversed	0
HGVS	NC_000007.13:g.73483015delC
CLNSRC
CLNACC	RCV000184020.1,