rs267607482

Orientation

plus

Stabilized

plus

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

Make rs267607482(G;G)

Reference

GRCh38 38.1/142

Chromosome

2

Position

219421340

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607482
dbSNP (classic)	rs267607482
ClinGen	rs267607482
ebi	rs267607482
HLI	rs267607482
Exac	rs267607482
Gnomad	rs267607482
Varsome	rs267607482
LitVar	rs267607482
Map	rs267607482
PheGenI	rs267607482
Biobank	rs267607482
1000 genomes	rs267607482
hgdp	rs267607482
ensembl	rs267607482
geneview	rs267607482
scholar	rs267607482
google	rs267607482
pharmgkb	rs267607482
gwascentral	rs267607482
openSNP	rs267607482
23andMe	rs267607482
SNPshot	rs267607482
SNPdbe	rs267607482
MSV3d	rs267607482
GWAS Ctlg	rs267607482

Max Magnitude

6.5

ClinVar
Risk	rs267607482(G;G)
Alt	rs267607482(G;G)
Reference	Rs267607482(A;A)
Significance	Pathogenic
Disease	not provided Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220286062A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056764.1, RCV000133502.2,