rs121913002

Orientation

plus

Stabilized

plus

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

Make rs121913002(C;G)

Make rs121913002(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219425727

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs121913002
dbSNP (classic)	rs121913002
ClinGen	rs121913002
ebi	rs121913002
HLI	rs121913002
Exac	rs121913002
Gnomad	rs121913002
Varsome	rs121913002
LitVar	rs121913002
Map	rs121913002
PheGenI	rs121913002
Biobank	rs121913002
1000 genomes	rs121913002
hgdp	rs121913002
ensembl	rs121913002
geneview	rs121913002
scholar	rs121913002
google	rs121913002
pharmgkb	rs121913002
gwascentral	rs121913002
openSNP	rs121913002
23andMe	rs121913002
SNPshot	rs121913002
SNPdbe	rs121913002
MSV3d	rs121913002
GWAS Ctlg	rs121913002

GMAF

0.0004591

Max Magnitude

0

OMIM	125660
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913002(G;G) rs121913002(T;T)
Alt	rs121913002(G;G) rs121913002(T;T)
Reference	Rs121913002(C;C)
Significance	Other
Disease	Dilated cardiomyopathy 1I not provided not specified Cardiovascular phenotype Muscular dystrophy Myofibrillar myopathy 1
Variation	info
Gene	DES LOC101928568
CLNDBN	Dilated cardiomyopathy 1I not provided not specified Cardiovascular phenotype Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220290449C>G; NC_000002.11:g.220290449C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018318.28, RCV000056787.3, RCV000254659.2, RCV000219399.2, RCV000252451.1, RCV000469256.1,