rs57955682

Orientation

plus

Stabilized

plus

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

Make rs57955682(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421470

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs57955682
dbSNP (classic)	rs57955682
ClinGen	rs57955682
ebi	rs57955682
HLI	rs57955682
Exac	rs57955682
Gnomad	rs57955682
Varsome	rs57955682
LitVar	rs57955682
Map	rs57955682
PheGenI	rs57955682
Biobank	rs57955682
1000 genomes	rs57955682
hgdp	rs57955682
ensembl	rs57955682
geneview	rs57955682
scholar	rs57955682
google	rs57955682
pharmgkb	rs57955682
gwascentral	rs57955682
openSNP	rs57955682
23andMe	rs57955682
SNPshot	rs57955682
SNPdbe	rs57955682
MSV3d	rs57955682
GWAS Ctlg	rs57955682

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0010
Related	also

ClinVar
Risk	rs57955682(C;C)
Alt	rs57955682(C;C)
Reference	Rs57955682(T;T)
Significance	Pathogenic
Disease	Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220286192T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018323.28, RCV000056775.1,