rs267607485

Orientation

plus

Stabilized

plus

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

Make rs267607485(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

219425720

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607485
dbSNP (classic)	rs267607485
ClinGen	rs267607485
ebi	rs267607485
HLI	rs267607485
Exac	rs267607485
Gnomad	rs267607485
Varsome	rs267607485
LitVar	rs267607485
Map	rs267607485
PheGenI	rs267607485
Biobank	rs267607485
1000 genomes	rs267607485
hgdp	rs267607485
ensembl	rs267607485
geneview	rs267607485
scholar	rs267607485
google	rs267607485
pharmgkb	rs267607485
gwascentral	rs267607485
openSNP	rs267607485
23andMe	rs267607485
SNPshot	rs267607485
SNPdbe	rs267607485
MSV3d	rs267607485
GWAS Ctlg	rs267607485

Max Magnitude

6.5

ClinVar
Risk	rs267607485(C;C)
Alt	rs267607485(C;C)
Reference	Rs267607485(A;A)
Significance	Pathogenic
Disease	not provided Myofibrillar myopathy Myofibrillar myopathy 1
Variation	info
Gene	DES LOC101928568
CLNDBN	not provided Myofibrillar myopathy Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220290442A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056786.1, RCV000239724.1, RCV000323215.1,