rs60794845

Orientation

plus

Stabilized

plus

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

Make rs60794845(C;T)

Make rs60794845(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

219418599

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs60794845
dbSNP (classic)	rs60794845
ClinGen	rs60794845
ebi	rs60794845
HLI	rs60794845
Exac	rs60794845
Gnomad	rs60794845
Varsome	rs60794845
LitVar	rs60794845
Map	rs60794845
PheGenI	rs60794845
Biobank	rs60794845
1000 genomes	rs60794845
hgdp	rs60794845
ensembl	rs60794845
geneview	rs60794845
scholar	rs60794845
google	rs60794845
pharmgkb	rs60794845
gwascentral	rs60794845
openSNP	rs60794845
23andMe	rs60794845
SNPshot	rs60794845
SNPdbe	rs60794845
MSV3d	rs60794845
GWAS Ctlg	rs60794845

Max Magnitude

6.5

ClinVar
Risk	rs60794845(A;A) rs60794845(T;T)
Alt	rs60794845(A;A) rs60794845(T;T)
Reference	Rs60794845(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	DES
CLNDBN	not provided
Reversed	0
HGVS	NC_000002.11:g.220283321C>A; NC_000002.11:g.220283321C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056793.1, RCV000056794.1,