rs267607499

Orientation

plus

Stabilized

plus

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

Make rs267607499(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219418809

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607499
dbSNP (classic)	rs267607499
ClinGen	rs267607499
ebi	rs267607499
HLI	rs267607499
Exac	rs267607499
Gnomad	rs267607499
Varsome	rs267607499
LitVar	rs267607499
Map	rs267607499
PheGenI	rs267607499
Biobank	rs267607499
1000 genomes	rs267607499
hgdp	rs267607499
ensembl	rs267607499
geneview	rs267607499
scholar	rs267607499
google	rs267607499
pharmgkb	rs267607499
gwascentral	rs267607499
openSNP	rs267607499
23andMe	rs267607499
SNPshot	rs267607499
SNPdbe	rs267607499
MSV3d	rs267607499
GWAS Ctlg	rs267607499

Max Magnitude

6.5

ClinVar
Risk	rs267607499(G;G) rs267607499(T;T)
Alt	rs267607499(G;G) rs267607499(T;T)
Reference	Rs267607499(A;A)
Significance	Probable-Pathogenic
Disease	not provided Myofibrillar myopathy 1 not specified
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy 1 not specified
Reversed	0
HGVS	NC_000002.11:g.220283531A>G; NC_000002.11:g.220283531A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056799.1, RCV000150380.1, RCV000217696.1,