rs587783812

Orientation

plus

Stabilized

plus

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

Make rs587783812(A;A)

Make rs587783812(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150614588

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783812
dbSNP (classic)	rs587783812
ClinGen	rs587783812
ebi	rs587783812
HLI	rs587783812
Exac	rs587783812
Gnomad	rs587783812
Varsome	rs587783812
LitVar	rs587783812
Map	rs587783812
PheGenI	rs587783812
Biobank	rs587783812
1000 genomes	rs587783812
hgdp	rs587783812
ensembl	rs587783812
geneview	rs587783812
scholar	rs587783812
google	rs587783812
pharmgkb	rs587783812
gwascentral	rs587783812
openSNP	rs587783812
23andMe	rs587783812
SNPshot	rs587783812
SNPdbe	rs587783812
MSV3d	rs587783812
GWAS Ctlg	rs587783812

Max Magnitude

0

ClinVar
Risk	rs587783812(A;A)
Alt	rs587783812(A;A)
Reference	Rs587783812(G;G)
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.149783061G>A
CLNSRC
CLNACC	RCV000146437.1,