rs57496341

Orientation

plus

Stabilized

plus

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

Make rs57496341(G;G)

Make rs57496341(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

219420943

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs57496341
dbSNP (classic)	rs57496341
ClinGen	rs57496341
ebi	rs57496341
HLI	rs57496341
Exac	rs57496341
Gnomad	rs57496341
Varsome	rs57496341
LitVar	rs57496341
Map	rs57496341
PheGenI	rs57496341
Biobank	rs57496341
1000 genomes	rs57496341
hgdp	rs57496341
ensembl	rs57496341
geneview	rs57496341
scholar	rs57496341
google	rs57496341
pharmgkb	rs57496341
gwascentral	rs57496341
openSNP	rs57496341
23andMe	rs57496341
SNPshot	rs57496341
SNPdbe	rs57496341
MSV3d	rs57496341
GWAS Ctlg	rs57496341

Max Magnitude

0

ClinVar
Risk	rs57496341(C;C) rs57496341(G;G)
Alt	rs57496341(C;C) rs57496341(G;G)
Reference	Rs57496341(T;T)
Significance	Probable-Pathogenic
Disease	Muscular dystrophy Myofibrillar myopathy 1 not provided
Variation	info
Gene	DES
CLNDBN	Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.220285665T>C; NC_000002.11:g.220285665T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000227930.1, RCV000056763.1,