rs150974575

Orientation

plus

Stabilized

plus

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

Make rs150974575(C;T)

Make rs150974575(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219423817

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs150974575
dbSNP (classic)	rs150974575
ClinGen	rs150974575
ebi	rs150974575
HLI	rs150974575
Exac	rs150974575
Gnomad	rs150974575
Varsome	rs150974575
LitVar	rs150974575
Map	rs150974575
PheGenI	rs150974575
Biobank	rs150974575
1000 genomes	rs150974575
hgdp	rs150974575
ensembl	rs150974575
geneview	rs150974575
scholar	rs150974575
google	rs150974575
pharmgkb	rs150974575
gwascentral	rs150974575
openSNP	rs150974575
23andMe	rs150974575
SNPshot	rs150974575
SNPdbe	rs150974575
MSV3d	rs150974575
GWAS Ctlg	rs150974575

Max Magnitude

0

ClinVar
Risk	rs150974575(T;T)
Alt	rs150974575(T;T)
Reference	Rs150974575(C;C)
Significance	Pathogenic
Disease	Myofibrillar myopathy Myofibrillar myopathy 1
Variation	info
Gene	DES LOC101928568
CLNDBN	Myofibrillar myopathy Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220288539C>T
CLNSRC
CLNACC	RCV000154519.1, RCV000327525.1,