rs58687088

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AAC)	6.5	Myofibrillar Myopathy
(AAC;AAC)	0	common in clinvar
(ACA;ACA)	0	common in clinvar

Make rs58687088(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421412

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs58687088
dbSNP (classic)	rs58687088
ClinGen	rs58687088
ebi	rs58687088
HLI	rs58687088
Exac	rs58687088
Gnomad	rs58687088
Varsome	rs58687088
LitVar	rs58687088
Map	rs58687088
PheGenI	rs58687088
Biobank	rs58687088
1000 genomes	rs58687088
hgdp	rs58687088
ensembl	rs58687088
geneview	rs58687088
scholar	rs58687088
google	rs58687088
pharmgkb	rs58687088
gwascentral	rs58687088
openSNP	rs58687088
23andMe	rs58687088
SNPshot	rs58687088
SNPdbe	rs58687088
MSV3d	rs58687088
GWAS Ctlg	rs58687088

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0013
Related	also

ClinVar
Risk	rs58687088(-;-)
Alt	rs58687088(-;-)
Reference	Rs58687088(ACA;ACA)
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.220286134_220286136delAAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018326.24, RCV000056771.1,