rs587783785

Orientation

plus

Stabilized

plus

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

Make rs587783785(A;T)

Make rs587783785(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150660393

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783785
dbSNP (classic)	rs587783785
ClinGen	rs587783785
ebi	rs587783785
HLI	rs587783785
Exac	rs587783785
Gnomad	rs587783785
Varsome	rs587783785
LitVar	rs587783785
Map	rs587783785
PheGenI	rs587783785
Biobank	rs587783785
1000 genomes	rs587783785
hgdp	rs587783785
ensembl	rs587783785
geneview	rs587783785
scholar	rs587783785
google	rs587783785
pharmgkb	rs587783785
gwascentral	rs587783785
openSNP	rs587783785
23andMe	rs587783785
SNPshot	rs587783785
SNPdbe	rs587783785
MSV3d	rs587783785
GWAS Ctlg	rs587783785

Max Magnitude

0

ClinVar
Risk	rs587783785(G;G) rs587783785(T;T)
Alt	rs587783785(G;G) rs587783785(T;T)
Reference	Rs587783785(A;A)
Significance	Pathogenic
Disease	Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149828866A>T
CLNSRC
CLNACC	RCV000146406.1,