rs267607490

Orientation

plus

Stabilized

plus

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

Make rs267607490(C;T)

Make rs267607490(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219425734

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607490
dbSNP (classic)	rs267607490
ClinGen	rs267607490
ebi	rs267607490
HLI	rs267607490
Exac	rs267607490
Gnomad	rs267607490
Varsome	rs267607490
LitVar	rs267607490
Map	rs267607490
PheGenI	rs267607490
Biobank	rs267607490
1000 genomes	rs267607490
hgdp	rs267607490
ensembl	rs267607490
geneview	rs267607490
scholar	rs267607490
google	rs267607490
pharmgkb	rs267607490
gwascentral	rs267607490
openSNP	rs267607490
23andMe	rs267607490
SNPshot	rs267607490
SNPdbe	rs267607490
MSV3d	rs267607490
GWAS Ctlg	rs267607490

Max Magnitude

0

ClinVar
Risk	rs267607490(T;T)
Alt	rs267607490(T;T)
Reference	Rs267607490(C;C)
Significance	Pathogenic
Disease	not provided Primary familial hypertrophic cardiomyopathy Myofibrillar myopathy 1 Dilated cardiomyopathy 1I
Variation	info
Gene	DES LOC101928568
CLNDBN	not provided Primary familial hypertrophic cardiomyopathy Myofibrillar myopathy 1 Dilated cardiomyopathy 1I
Reversed	0
HGVS	NC_000002.11:g.220290456C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056789.3, RCV000155027.3, RCV000211712.3, RCV000389943.1,