rs781590560

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Myofibrillar Myopathy

Make rs781590560(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420150

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs781590560
dbSNP (classic)	rs781590560
ClinGen	rs781590560
ebi	rs781590560
HLI	rs781590560
Exac	rs781590560
Gnomad	rs781590560
Varsome	rs781590560
LitVar	rs781590560
Map	rs781590560
PheGenI	rs781590560
Biobank	rs781590560
1000 genomes	rs781590560
hgdp	rs781590560
ensembl	rs781590560
geneview	rs781590560
scholar	rs781590560
google	rs781590560
pharmgkb	rs781590560
gwascentral	rs781590560
openSNP	rs781590560
23andMe	rs781590560
SNPshot	rs781590560
SNPdbe	rs781590560
MSV3d	rs781590560
GWAS Ctlg	rs781590560

Max Magnitude

6.5

ClinVar
Risk	rs781590560(T;T)
Alt	rs781590560(T;T)
Reference	Rs781590560(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	DES
CLNDBN	not provided
Reversed	0
HGVS	NC_000002.11:g.220284872C>T
CLNSRC
CLNACC	RCV000183373.1,