rs62635763

Orientation

plus

Stabilized

plus

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

Make rs62635763(C;T)

Make rs62635763(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219423787

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs62635763
dbSNP (classic)	rs62635763
ClinGen	rs62635763
ebi	rs62635763
HLI	rs62635763
Exac	rs62635763
Gnomad	rs62635763
Varsome	rs62635763
LitVar	rs62635763
Map	rs62635763
PheGenI	rs62635763
Biobank	rs62635763
1000 genomes	rs62635763
hgdp	rs62635763
ensembl	rs62635763
geneview	rs62635763
scholar	rs62635763
google	rs62635763
pharmgkb	rs62635763
gwascentral	rs62635763
openSNP	rs62635763
23andMe	rs62635763
SNPshot	rs62635763
SNPdbe	rs62635763
MSV3d	rs62635763
GWAS Ctlg	rs62635763

Max Magnitude

0

ClinVar
Risk	rs62635763(T;T)
Alt	rs62635763(T;T)
Reference	Rs62635763(C;C)
Significance	Other
Disease	Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES LOC101928568
CLNDBN	Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220288509C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032923.29, RCV000056783.1,