rs58898021

Orientation

plus

Stabilized

plus

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

Make rs58898021(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

219421385

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs58898021
dbSNP (classic)	rs58898021
ClinGen	rs58898021
ebi	rs58898021
HLI	rs58898021
Exac	rs58898021
Gnomad	rs58898021
Varsome	rs58898021
LitVar	rs58898021
Map	rs58898021
PheGenI	rs58898021
Biobank	rs58898021
1000 genomes	rs58898021
hgdp	rs58898021
ensembl	rs58898021
geneview	rs58898021
scholar	rs58898021
google	rs58898021
pharmgkb	rs58898021
gwascentral	rs58898021
openSNP	rs58898021
23andMe	rs58898021
SNPshot	rs58898021
SNPdbe	rs58898021
MSV3d	rs58898021
GWAS Ctlg	rs58898021

Max Magnitude

6.5

ClinVar
Risk	rs58898021(C;C)
Alt	rs58898021(C;C)
Reference	Rs58898021(G;G)
Significance	Pathogenic
Disease	not provided Myofibrillar myopathy
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy
Reversed	0
HGVS	NC_000002.11:g.220286107G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056769.1, RCV000239682.1,