rs59962885

Orientation

plus

Stabilized

plus

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

Make rs59962885(C;C)

Make rs59962885(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219420939

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs59962885
dbSNP (classic)	rs59962885
ClinGen	rs59962885
ebi	rs59962885
HLI	rs59962885
Exac	rs59962885
Gnomad	rs59962885
Varsome	rs59962885
LitVar	rs59962885
Map	rs59962885
PheGenI	rs59962885
Biobank	rs59962885
1000 genomes	rs59962885
hgdp	rs59962885
ensembl	rs59962885
geneview	rs59962885
scholar	rs59962885
google	rs59962885
pharmgkb	rs59962885
gwascentral	rs59962885
openSNP	rs59962885
23andMe	rs59962885
SNPshot	rs59962885
SNPdbe	rs59962885
MSV3d	rs59962885
GWAS Ctlg	rs59962885

Max Magnitude

0

OMIM	125660
Desc
Variant	0001
Related	also

ClinVar
Risk	rs59962885(A;A) rs59962885(C;C)
Alt	rs59962885(A;A) rs59962885(C;C)
Reference	Rs59962885(G;G)
Significance	Pathogenic
Disease	not specified Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES
CLNDBN	not specified Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220285661G>A; NC_000002.11:g.220285661G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000423698.1, RCV000018314.23, RCV000056762.1,