rs57965306

Orientation

plus

Stabilized

plus

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

Make rs57965306(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421365

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs57965306
dbSNP (classic)	rs57965306
ClinGen	rs57965306
ebi	rs57965306
HLI	rs57965306
Exac	rs57965306
Gnomad	rs57965306
Varsome	rs57965306
LitVar	rs57965306
Map	rs57965306
PheGenI	rs57965306
Biobank	rs57965306
1000 genomes	rs57965306
hgdp	rs57965306
ensembl	rs57965306
geneview	rs57965306
scholar	rs57965306
google	rs57965306
pharmgkb	rs57965306
gwascentral	rs57965306
openSNP	rs57965306
23andMe	rs57965306
SNPshot	rs57965306
SNPdbe	rs57965306
MSV3d	rs57965306
GWAS Ctlg	rs57965306

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0016
Related	also

ClinVar
Risk	rs57965306(A;A) rs57965306(C;C)
Alt	rs57965306(A;A) rs57965306(C;C)
Reference	Rs57965306(G;G)
Significance	Pathogenic
Disease	Scapuloperoneal syndrome not provided
Variation	info
Gene	DES
CLNDBN	Scapuloperoneal syndrome, neurogenic, Kaeser type not provided
Reversed	0
HGVS	NC_000002.11:g.220286087G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018329.23, RCV000056767.1,