rs587783761

Orientation

plus

Stabilized

plus

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

Make rs587783761(G;G)

Make rs587783761(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150657958

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783761
dbSNP (classic)	rs587783761
ClinGen	rs587783761
ebi	rs587783761
HLI	rs587783761
Exac	rs587783761
Gnomad	rs587783761
Varsome	rs587783761
LitVar	rs587783761
Map	rs587783761
PheGenI	rs587783761
Biobank	rs587783761
1000 genomes	rs587783761
hgdp	rs587783761
ensembl	rs587783761
geneview	rs587783761
scholar	rs587783761
google	rs587783761
pharmgkb	rs587783761
gwascentral	rs587783761
openSNP	rs587783761
23andMe	rs587783761
SNPshot	rs587783761
SNPdbe	rs587783761
MSV3d	rs587783761
GWAS Ctlg	rs587783761

Max Magnitude

0

ClinVar
Risk	rs587783761(C;C) rs587783761(G;G)
Alt	rs587783761(C;C) rs587783761(G;G)
Reference	Rs587783761(T;T)
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.149826431T>G
CLNSRC
CLNACC	RCV000146382.1,