rs587777673

Orientation

plus

Stabilized

plus

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

Make rs587777673(C;T)

Make rs587777673(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

219473732

Gene

SPEG

is a	snp
is	mentioned by
dbSNP	rs587777673
dbSNP (classic)	rs587777673
ClinGen	rs587777673
ebi	rs587777673
HLI	rs587777673
Exac	rs587777673
Gnomad	rs587777673
Varsome	rs587777673
LitVar	rs587777673
Map	rs587777673
PheGenI	rs587777673
Biobank	rs587777673
1000 genomes	rs587777673
hgdp	rs587777673
ensembl	rs587777673
geneview	rs587777673
scholar	rs587777673
google	rs587777673
pharmgkb	rs587777673
gwascentral	rs587777673
openSNP	rs587777673
23andMe	rs587777673
SNPshot	rs587777673
SNPdbe	rs587777673
MSV3d	rs587777673
GWAS Ctlg	rs587777673

Max Magnitude

0

ClinVar
Risk	rs587777673(T;T)
Alt	rs587777673(T;T)
Reference	Rs587777673(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	SPEG
CLNDBN	Myopathy, centronuclear, 5
Reversed	0
HGVS	NC_000002.11:g.220338454C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133590.4,