rs794728996

Orientation

plus

Stabilized

plus

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

Make rs794728996(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

219418820

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs794728996
dbSNP (classic)	rs794728996
ClinGen	rs794728996
ebi	rs794728996
HLI	rs794728996
Exac	rs794728996
Gnomad	rs794728996
Varsome	rs794728996
LitVar	rs794728996
Map	rs794728996
PheGenI	rs794728996
Biobank	rs794728996
1000 genomes	rs794728996
hgdp	rs794728996
ensembl	rs794728996
geneview	rs794728996
scholar	rs794728996
google	rs794728996
pharmgkb	rs794728996
gwascentral	rs794728996
openSNP	rs794728996
23andMe	rs794728996
SNPshot	rs794728996
SNPdbe	rs794728996
MSV3d	rs794728996
GWAS Ctlg	rs794728996

Max Magnitude

6.5

ClinVar
Risk	rs794728996(C;C)
Alt	rs794728996(C;C)
Reference	Rs794728996(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	DES
CLNDBN	not provided
Reversed	0
HGVS	NC_000002.11:g.220283542G>C
CLNSRC
CLNACC	RCV000183377.1,