rs150370918

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common genotype

Make rs150370918(C;T)

Make rs150370918(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219420551

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs150370918
dbSNP (classic)	rs150370918
ClinGen	rs150370918
ebi	rs150370918
HLI	rs150370918
Exac	rs150370918
Gnomad	rs150370918
Varsome	rs150370918
LitVar	rs150370918
Map	rs150370918
PheGenI	rs150370918
Biobank	rs150370918
1000 genomes	rs150370918
hgdp	rs150370918
ensembl	rs150370918
geneview	rs150370918
scholar	rs150370918
google	rs150370918
pharmgkb	rs150370918
gwascentral	rs150370918
openSNP	rs150370918
23andMe	rs150370918
SNPshot	rs150370918
SNPdbe	rs150370918
MSV3d	rs150370918
GWAS Ctlg	rs150370918

Max Magnitude

0

ClinVar
Risk	rs150370918(T;T)
Alt	rs150370918(T;T)
Reference	Rs150370918(C;C)
Significance	Other
Disease	not specified Muscular dystrophy Myofibrillar myopathy 1 Cardiovascular phenotype Myofibrillar Myopathy Scapuloperoneal weakness Dilated Cardiomyopathy
Variation	info
Gene	DES
CLNDBN	not specified Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 Cardiovascular phenotype Myofibrillar Myopathy, Dominant Scapuloperoneal weakness Dilated Cardiomyopathy, Dominant
Reversed	0
HGVS	NC_000002.11:g.220285273C>T
CLNSRC
CLNACC	RCV000037253.7, RCV000204254.3, RCV000242387.1, RCV000295994.1, RCV000345483.1, RCV000350858.1, RCV000381468.1,