rs587783796

Orientation

plus

Stabilized

plus

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

Make rs587783796(A;A)

Make rs587783796(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150598600

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783796
dbSNP (classic)	rs587783796
ClinGen	rs587783796
ebi	rs587783796
HLI	rs587783796
Exac	rs587783796
Gnomad	rs587783796
Varsome	rs587783796
LitVar	rs587783796
Map	rs587783796
PheGenI	rs587783796
Biobank	rs587783796
1000 genomes	rs587783796
hgdp	rs587783796
ensembl	rs587783796
geneview	rs587783796
scholar	rs587783796
google	rs587783796
pharmgkb	rs587783796
gwascentral	rs587783796
openSNP	rs587783796
23andMe	rs587783796
SNPshot	rs587783796
SNPdbe	rs587783796
MSV3d	rs587783796
GWAS Ctlg	rs587783796

Max Magnitude

0

ClinVar
Risk	rs587783796(A;A) rs587783796(T;T)
Alt	rs587783796(A;A) rs587783796(T;T)
Reference	Rs587783796(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.149767064G>A; NC_000023.10:g.149767064G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146418.1, RCV000146419.1,