rs121913004

Orientation

plus

Stabilized

plus

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

Make rs121913004(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421482

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs121913004
dbSNP (classic)	rs121913004
ClinGen	rs121913004
ebi	rs121913004
HLI	rs121913004
Exac	rs121913004
Gnomad	rs121913004
Varsome	rs121913004
LitVar	rs121913004
Map	rs121913004
PheGenI	rs121913004
Biobank	rs121913004
1000 genomes	rs121913004
hgdp	rs121913004
ensembl	rs121913004
geneview	rs121913004
scholar	rs121913004
google	rs121913004
pharmgkb	rs121913004
gwascentral	rs121913004
openSNP	rs121913004
23andMe	rs121913004
SNPshot	rs121913004
SNPdbe	rs121913004
MSV3d	rs121913004
GWAS Ctlg	rs121913004

Merged from

Rs28930075

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121913004(C;C)
Alt	rs121913004(C;C)
Reference	Rs121913004(A;A)
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.220286204A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018324.24, RCV000056776.1,