rs730880289

Orientation

plus

Stabilized

plus

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

Make rs730880289(-;-)

Make rs730880289(-;GA)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420158

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs730880289
dbSNP (classic)	rs730880289
ClinGen	rs730880289
ebi	rs730880289
HLI	rs730880289
Exac	rs730880289
Gnomad	rs730880289
Varsome	rs730880289
LitVar	rs730880289
Map	rs730880289
PheGenI	rs730880289
Biobank	rs730880289
1000 genomes	rs730880289
hgdp	rs730880289
ensembl	rs730880289
geneview	rs730880289
scholar	rs730880289
google	rs730880289
pharmgkb	rs730880289
gwascentral	rs730880289
openSNP	rs730880289
23andMe	rs730880289
SNPshot	rs730880289
SNPdbe	rs730880289
MSV3d	rs730880289
GWAS Ctlg	rs730880289

Max Magnitude

0

ClinVar
Risk	rs730880289(-;-)
Alt	rs730880289(-;-)
Reference	Rs730880289(GA;GA)
Significance	Pathogenic
Disease	Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220284880_220284881delGA
CLNSRC
CLNACC	RCV000157059.2,