rs267607495

Orientation

plus

Stabilized

plus

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

Make rs267607495(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219418497

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607495
dbSNP (classic)	rs267607495
ClinGen	rs267607495
ebi	rs267607495
HLI	rs267607495
Exac	rs267607495
Gnomad	rs267607495
Varsome	rs267607495
LitVar	rs267607495
Map	rs267607495
PheGenI	rs267607495
Biobank	rs267607495
1000 genomes	rs267607495
hgdp	rs267607495
ensembl	rs267607495
geneview	rs267607495
scholar	rs267607495
google	rs267607495
pharmgkb	rs267607495
gwascentral	rs267607495
openSNP	rs267607495
23andMe	rs267607495
SNPshot	rs267607495
SNPdbe	rs267607495
MSV3d	rs267607495
GWAS Ctlg	rs267607495

Max Magnitude

6.5

ClinVar
Risk	rs267607495(T;T)
Alt	rs267607495(T;T)
Reference	Rs267607495(C;C)
Significance	Probable-Pathogenic
Disease	not provided Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220283219C>T
CLNSRC
CLNACC	RCV000056800.1, RCV000154600.1,