rs587777300

Orientation

plus

Stabilized

plus

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

Make rs587777300(G;G)

Make rs587777300(G;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

139307759

Gene

MATR3

is a	snp
is	mentioned by
dbSNP	rs587777300
dbSNP (classic)	rs587777300
ClinGen	rs587777300
ebi	rs587777300
HLI	rs587777300
Exac	rs587777300
Gnomad	rs587777300
Varsome	rs587777300
LitVar	rs587777300
Map	rs587777300
PheGenI	rs587777300
Biobank	rs587777300
1000 genomes	rs587777300
hgdp	rs587777300
ensembl	rs587777300
geneview	rs587777300
scholar	rs587777300
google	rs587777300
pharmgkb	rs587777300
gwascentral	rs587777300
openSNP	rs587777300
23andMe	rs587777300
SNPshot	rs587777300
SNPdbe	rs587777300
MSV3d	rs587777300
GWAS Ctlg	rs587777300

Max Magnitude

0

ClinVar
Risk	rs587777300(G;G)
Alt	rs587777300(G;G)
Reference	Rs587777300(T;T)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	MATR3
CLNDBN	Myopathy, distal, 2
Reversed	0
HGVS	NC_000005.9:g.138643448T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000114430.3,