rs60538473

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CGCGCGCGCGTCGACGTCGAG)	6.5	Myofibrillar Myopathy
(AGCGCGCGCGCGTCGACGTCG;AGCGCGCGCGCGTCGACGTCG)	0	common in clinvar
(CGCGCGCGCGTCGACGTCGAG;CGCGCGCGCGTCGACGTCGAG)	0	common in clinvar

Make rs60538473(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219418979

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs60538473
dbSNP (classic)	rs60538473
ClinGen	rs60538473
ebi	rs60538473
HLI	rs60538473
Exac	rs60538473
Gnomad	rs60538473
Varsome	rs60538473
LitVar	rs60538473
Map	rs60538473
PheGenI	rs60538473
Biobank	rs60538473
1000 genomes	rs60538473
hgdp	rs60538473
ensembl	rs60538473
geneview	rs60538473
scholar	rs60538473
google	rs60538473
pharmgkb	rs60538473
gwascentral	rs60538473
openSNP	rs60538473
23andMe	rs60538473
SNPshot	rs60538473
SNPdbe	rs60538473
MSV3d	rs60538473
GWAS Ctlg	rs60538473

Max Magnitude

6.5

ClinVar
Risk	rs60538473(-;-)
Alt	rs60538473(-;-)
Reference	Rs60538473(AGCGCGCGCGCGTCGACGTCG;AGCGCGCGCGCGTCGACGTCG)
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.220283701_220283721del21
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018317.29, RCV000056803.1,