rs62636495

Orientation

plus

Stabilized

plus

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

Make rs62636495(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219418500

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs62636495
dbSNP (classic)	rs62636495
ClinGen	rs62636495
ebi	rs62636495
HLI	rs62636495
Exac	rs62636495
Gnomad	rs62636495
Varsome	rs62636495
LitVar	rs62636495
Map	rs62636495
PheGenI	rs62636495
Biobank	rs62636495
1000 genomes	rs62636495
hgdp	rs62636495
ensembl	rs62636495
geneview	rs62636495
scholar	rs62636495
google	rs62636495
pharmgkb	rs62636495
gwascentral	rs62636495
openSNP	rs62636495
23andMe	rs62636495
SNPshot	rs62636495
SNPdbe	rs62636495
MSV3d	rs62636495
GWAS Ctlg	rs62636495

Max Magnitude

6.5

aka c.38C>T (p.Ser13Phe)

ClinVar
Risk	rs62636495(T;T)
Alt	rs62636495(T;T)
Reference	Rs62636495(C;C)
Significance	Pathogenic
Disease	Primary dilated cardiomyopathy not provided Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	Primary dilated cardiomyopathy not provided Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220283222C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000037240.2, RCV000056801.3, RCV000133501.7,