rs62636491

Orientation

plus

Stabilized

plus

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

Make rs62636491(C;T)

Make rs62636491(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420652

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs62636491
dbSNP (classic)	rs62636491
ClinGen	rs62636491
ebi	rs62636491
HLI	rs62636491
Exac	rs62636491
Gnomad	rs62636491
Varsome	rs62636491
LitVar	rs62636491
Map	rs62636491
PheGenI	rs62636491
Biobank	rs62636491
1000 genomes	rs62636491
hgdp	rs62636491
ensembl	rs62636491
geneview	rs62636491
scholar	rs62636491
google	rs62636491
pharmgkb	rs62636491
gwascentral	rs62636491
openSNP	rs62636491
23andMe	rs62636491
SNPshot	rs62636491
SNPdbe	rs62636491
MSV3d	rs62636491
GWAS Ctlg	rs62636491

Max Magnitude

0

ClinVar
Risk	rs62636491(T;T)
Alt	rs62636491(T;T)
Reference	Rs62636491(C;C)
Significance	Probable-Pathogenic
Disease	not provided Dilated cardiomyopathy not specified Muscular dystrophy Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not provided Dilated cardiomyopathy not specified Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220285374C>T
CLNSRC
CLNACC	RCV000056814.1, RCV000171830.1, RCV000357241.1, RCV000466593.1,