rs587783862

Orientation

plus

Stabilized

plus

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

Make rs587783862(-;-)

Make rs587783862(-;CTT)

Make rs587783862(CTT;CTT)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150649772

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783862
dbSNP (classic)	rs587783862
ClinGen	rs587783862
ebi	rs587783862
HLI	rs587783862
Exac	rs587783862
Gnomad	rs587783862
Varsome	rs587783862
LitVar	rs587783862
Map	rs587783862
PheGenI	rs587783862
Biobank	rs587783862
1000 genomes	rs587783862
hgdp	rs587783862
ensembl	rs587783862
geneview	rs587783862
scholar	rs587783862
google	rs587783862
pharmgkb	rs587783862
gwascentral	rs587783862
openSNP	rs587783862
23andMe	rs587783862
SNPshot	rs587783862
SNPdbe	rs587783862
MSV3d	rs587783862
GWAS Ctlg	rs587783862

Max Magnitude

0

ClinVar
Risk	rs587783862(-;-)
Alt	rs587783862(-;-)
Reference	Rs587783862(TTC;TTC)
Significance	Probable-Pathogenic
Disease	Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149818245_149818247delCTT
CLNSRC
CLNACC	RCV000146489.1,