rs59308628

Orientation

plus

Stabilized

plus

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

Make rs59308628(C;C)

Make rs59308628(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

219421425

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs59308628
dbSNP (classic)	rs59308628
ClinGen	rs59308628
ebi	rs59308628
HLI	rs59308628
Exac	rs59308628
Gnomad	rs59308628
Varsome	rs59308628
LitVar	rs59308628
Map	rs59308628
PheGenI	rs59308628
Biobank	rs59308628
1000 genomes	rs59308628
hgdp	rs59308628
ensembl	rs59308628
geneview	rs59308628
scholar	rs59308628
google	rs59308628
pharmgkb	rs59308628
gwascentral	rs59308628
openSNP	rs59308628
23andMe	rs59308628
SNPshot	rs59308628
SNPdbe	rs59308628
MSV3d	rs59308628
GWAS Ctlg	rs59308628

Max Magnitude

0

ClinVar
Risk	rs59308628(C;C)
Alt	rs59308628(C;C)
Reference	Rs59308628(T;T)
Significance	Pathogenic
Disease	not provided Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220286147T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056773.1, RCV000309663.1,