rs748323823

Orientation

plus

Stabilized

plus

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

Make rs748323823(A;A)

Make rs748323823(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219425746

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs748323823
dbSNP (classic)	rs748323823
ClinGen	rs748323823
ebi	rs748323823
HLI	rs748323823
Exac	rs748323823
Gnomad	rs748323823
Varsome	rs748323823
LitVar	rs748323823
Map	rs748323823
PheGenI	rs748323823
Biobank	rs748323823
1000 genomes	rs748323823
hgdp	rs748323823
ensembl	rs748323823
geneview	rs748323823
scholar	rs748323823
google	rs748323823
pharmgkb	rs748323823
gwascentral	rs748323823
openSNP	rs748323823
23andMe	rs748323823
SNPshot	rs748323823
SNPdbe	rs748323823
MSV3d	rs748323823
GWAS Ctlg	rs748323823

Max Magnitude

6.5

ClinVar
Risk	rs748323823(A;A) rs748323823(C;C)
Alt	rs748323823(A;A) rs748323823(C;C)
Reference	Rs748323823(G;G)
Significance	Pathogenic
Disease	not provided not specified Myofibrillar myopathy 1
Variation	info
Gene	DES LOC101928568
CLNDBN	not provided not specified Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220290468G>A; NC_000002.11:g.220290468G>C
CLNSRC
CLNACC	RCV000183362.3, RCV000223904.1, RCV000458158.1, RCV000183363.1,