rs587777676

Orientation

plus

Stabilized

plus

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

Make rs587777676(G;T)

Make rs587777676(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

219489174

Gene	LOC105373885, SPEG

is a	snp
is	mentioned by
dbSNP	rs587777676
dbSNP (classic)	rs587777676
ClinGen	rs587777676
ebi	rs587777676
HLI	rs587777676
Exac	rs587777676
Gnomad	rs587777676
Varsome	rs587777676
LitVar	rs587777676
Map	rs587777676
PheGenI	rs587777676
Biobank	rs587777676
1000 genomes	rs587777676
hgdp	rs587777676
ensembl	rs587777676
geneview	rs587777676
scholar	rs587777676
google	rs587777676
pharmgkb	rs587777676
gwascentral	rs587777676
openSNP	rs587777676
23andMe	rs587777676
SNPshot	rs587777676
SNPdbe	rs587777676
MSV3d	rs587777676
GWAS Ctlg	rs587777676

Max Magnitude

0

ClinVar
Risk	rs587777676(T;T)
Alt	rs587777676(T;T)
Reference	Rs587777676(G;G)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	SPEG
CLNDBN	Myopathy, centronuclear, 5
Reversed	0
HGVS	NC_000002.11:g.220353896G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000133593.5,