rs57639980

Orientation

plus

Stabilized

plus

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

Make rs57639980(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421350

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs57639980
dbSNP (classic)	rs57639980
ClinGen	rs57639980
ebi	rs57639980
HLI	rs57639980
Exac	rs57639980
Gnomad	rs57639980
Varsome	rs57639980
LitVar	rs57639980
Map	rs57639980
PheGenI	rs57639980
Biobank	rs57639980
1000 genomes	rs57639980
hgdp	rs57639980
ensembl	rs57639980
geneview	rs57639980
scholar	rs57639980
google	rs57639980
pharmgkb	rs57639980
gwascentral	rs57639980
openSNP	rs57639980
23andMe	rs57639980
SNPshot	rs57639980
SNPdbe	rs57639980
MSV3d	rs57639980
GWAS Ctlg	rs57639980

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0006
Related	also

ClinVar
Risk	rs57639980(C;C)
Alt	rs57639980(C;C)
Reference	Rs57639980(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.220286072T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018319.28, RCV000056765.1,