rs769647148

Orientation

plus

Stabilized

plus

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

Make rs769647148(C;T)

Make rs769647148(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420338

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs769647148
dbSNP (classic)	rs769647148
ClinGen	rs769647148
ebi	rs769647148
HLI	rs769647148
Exac	rs769647148
Gnomad	rs769647148
Varsome	rs769647148
LitVar	rs769647148
Map	rs769647148
PheGenI	rs769647148
Biobank	rs769647148
1000 genomes	rs769647148
hgdp	rs769647148
ensembl	rs769647148
geneview	rs769647148
scholar	rs769647148
google	rs769647148
pharmgkb	rs769647148
gwascentral	rs769647148
openSNP	rs769647148
23andMe	rs769647148
SNPshot	rs769647148
SNPdbe	rs769647148
MSV3d	rs769647148
GWAS Ctlg	rs769647148

Max Magnitude

0

ClinVar
Risk	rs769647148(T;T)
Alt	rs769647148(T;T)
Reference	Rs769647148(C;C)
Significance	Probable-Pathogenic
Disease	not specified Muscular dystrophy Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not specified Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220285060C>T
CLNSRC
CLNACC	RCV000183347.2, RCV000473075.1,