rs121913000

Orientation

plus

Stabilized

plus

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

Make rs121913000(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421394

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs121913000
dbSNP (classic)	rs121913000
ClinGen	rs121913000
ebi	rs121913000
HLI	rs121913000
Exac	rs121913000
Gnomad	rs121913000
Varsome	rs121913000
LitVar	rs121913000
Map	rs121913000
PheGenI	rs121913000
Biobank	rs121913000
1000 genomes	rs121913000
hgdp	rs121913000
ensembl	rs121913000
geneview	rs121913000
scholar	rs121913000
google	rs121913000
pharmgkb	rs121913000
gwascentral	rs121913000
openSNP	rs121913000
23andMe	rs121913000
SNPshot	rs121913000
SNPdbe	rs121913000
MSV3d	rs121913000
GWAS Ctlg	rs121913000

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913000(C;C)
Alt	rs121913000(C;C)
Reference	Rs121913000(G;G)
Significance	Pathogenic
Disease	Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220286116G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018315.24,