rs398122940

Orientation

plus

Stabilized

plus

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

Make rs398122940(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219425661

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs398122940
dbSNP (classic)	rs398122940
ClinGen	rs398122940
ebi	rs398122940
HLI	rs398122940
Exac	rs398122940
Gnomad	rs398122940
Varsome	rs398122940
LitVar	rs398122940
Map	rs398122940
PheGenI	rs398122940
Biobank	rs398122940
1000 genomes	rs398122940
hgdp	rs398122940
ensembl	rs398122940
geneview	rs398122940
scholar	rs398122940
google	rs398122940
pharmgkb	rs398122940
gwascentral	rs398122940
openSNP	rs398122940
23andMe	rs398122940
SNPshot	rs398122940
SNPdbe	rs398122940
MSV3d	rs398122940
GWAS Ctlg	rs398122940

Max Magnitude

6.5

ClinVar
Risk	rs398122940(G;G)
Alt	rs398122940(G;G)
Reference	Rs398122940(A;A)
Significance	Pathogenic
Disease	Muscular dystrophy
Variation	info
Gene	DES LOC101928568
CLNDBN	Muscular dystrophy, limb-girdle, type 2r
Reversed	0
HGVS	NC_000002.11:g.220290383A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000050215.33,