rs121913005

Orientation

plus

Stabilized

plus

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

Make rs121913005(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219425699

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs121913005
dbSNP (classic)	rs121913005
ClinGen	rs121913005
ebi	rs121913005
HLI	rs121913005
Exac	rs121913005
Gnomad	rs121913005
Varsome	rs121913005
LitVar	rs121913005
Map	rs121913005
PheGenI	rs121913005
Biobank	rs121913005
1000 genomes	rs121913005
hgdp	rs121913005
ensembl	rs121913005
geneview	rs121913005
scholar	rs121913005
google	rs121913005
pharmgkb	rs121913005
gwascentral	rs121913005
openSNP	rs121913005
23andMe	rs121913005
SNPshot	rs121913005
SNPdbe	rs121913005
MSV3d	rs121913005
GWAS Ctlg	rs121913005

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121913005(T;T)
Alt	rs121913005(T;T)
Reference	Rs121913005(C;C)
Significance	Pathogenic
Disease	Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES LOC101928568
CLNDBN	Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220290421C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018328.30, RCV000056784.1,