rs121913003

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121913003(C;T)

Make rs121913003(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421532

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs121913003
dbSNP (classic)	rs121913003
ClinGen	rs121913003
ebi	rs121913003
HLI	rs121913003
Exac	rs121913003
Gnomad	rs121913003
Varsome	rs121913003
LitVar	rs121913003
Map	rs121913003
PheGenI	rs121913003
Biobank	rs121913003
1000 genomes	rs121913003
hgdp	rs121913003
ensembl	rs121913003
geneview	rs121913003
scholar	rs121913003
google	rs121913003
pharmgkb	rs121913003
gwascentral	rs121913003
openSNP	rs121913003
23andMe	rs121913003
SNPshot	rs121913003
SNPdbe	rs121913003
MSV3d	rs121913003
GWAS Ctlg	rs121913003

Max Magnitude

0

OMIM	125660
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121913003(T;T)
Alt	rs121913003(T;T)
Reference	Rs121913003(C;C)
Significance	Other
Disease	Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220286254C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018320.30, RCV000056781.4,