rs267607483

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs267607483(A;G)

Make rs267607483(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420349

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs267607483
dbSNP (classic)	rs267607483
ClinGen	rs267607483
ebi	rs267607483
HLI	rs267607483
Exac	rs267607483
Gnomad	rs267607483
Varsome	rs267607483
LitVar	rs267607483
Map	rs267607483
PheGenI	rs267607483
Biobank	rs267607483
1000 genomes	rs267607483
hgdp	rs267607483
ensembl	rs267607483
geneview	rs267607483
scholar	rs267607483
google	rs267607483
pharmgkb	rs267607483
gwascentral	rs267607483
openSNP	rs267607483
23andMe	rs267607483
SNPshot	rs267607483
SNPdbe	rs267607483
MSV3d	rs267607483
GWAS Ctlg	rs267607483

Max Magnitude

0

ClinVar
Risk	rs267607483(G;G) rs267607483(T;T)
Alt	rs267607483(G;G) rs267607483(T;T)
Reference	Rs267607483(A;A)
Significance	Pathogenic
Disease	not provided Myofibrillar myopathy Muscular dystrophy Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220285071A>G; NC_000002.11:g.220285071A>T
CLNSRC
CLNACC	RCV000056810.1, RCV000154574.1, RCV000459118.1,