rs121913001

Orientation

plus

Stabilized

plus

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

Make rs121913001(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219421494

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs121913001
dbSNP (classic)	rs121913001
ClinGen	rs121913001
ebi	rs121913001
HLI	rs121913001
Exac	rs121913001
Gnomad	rs121913001
Varsome	rs121913001
LitVar	rs121913001
Map	rs121913001
PheGenI	rs121913001
Biobank	rs121913001
1000 genomes	rs121913001
hgdp	rs121913001
ensembl	rs121913001
geneview	rs121913001
scholar	rs121913001
google	rs121913001
pharmgkb	rs121913001
gwascentral	rs121913001
openSNP	rs121913001
23andMe	rs121913001
SNPshot	rs121913001
SNPdbe	rs121913001
MSV3d	rs121913001
GWAS Ctlg	rs121913001

Max Magnitude

6.5

OMIM	125660
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913001(G;G) rs121913001(T;T)
Alt	rs121913001(G;G) rs121913001(T;T)
Reference	Rs121913001(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.220286216A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018316.29, RCV000056778.1,