rs727504448

Orientation

plus

Stabilized

plus

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

Make rs727504448(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420116

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs727504448
dbSNP (classic)	rs727504448
ClinGen	rs727504448
ebi	rs727504448
HLI	rs727504448
Exac	rs727504448
Gnomad	rs727504448
Varsome	rs727504448
LitVar	rs727504448
Map	rs727504448
PheGenI	rs727504448
Biobank	rs727504448
1000 genomes	rs727504448
hgdp	rs727504448
ensembl	rs727504448
geneview	rs727504448
scholar	rs727504448
google	rs727504448
pharmgkb	rs727504448
gwascentral	rs727504448
openSNP	rs727504448
23andMe	rs727504448
SNPshot	rs727504448
SNPdbe	rs727504448
MSV3d	rs727504448
GWAS Ctlg	rs727504448

Max Magnitude

6.5

ClinVar
Risk	rs727504448(-;-)
Alt	rs727504448(-;-)
Reference	Rs727504448(G;G)
Significance	Probable-Pathogenic
Disease	Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220284838delG
CLNSRC
CLNACC	RCV000155417.1,