rs672601324

Orientation

plus

Stabilized

plus

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

Make rs672601324(A;A)

Make rs672601324(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150645682

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs672601324
dbSNP (classic)	rs672601324
ClinGen	rs672601324
ebi	rs672601324
HLI	rs672601324
Exac	rs672601324
Gnomad	rs672601324
Varsome	rs672601324
LitVar	rs672601324
Map	rs672601324
PheGenI	rs672601324
Biobank	rs672601324
1000 genomes	rs672601324
hgdp	rs672601324
ensembl	rs672601324
geneview	rs672601324
scholar	rs672601324
google	rs672601324
pharmgkb	rs672601324
gwascentral	rs672601324
openSNP	rs672601324
23andMe	rs672601324
SNPshot	rs672601324
SNPdbe	rs672601324
MSV3d	rs672601324
GWAS Ctlg	rs672601324

Max Magnitude

0

ClinVar
Risk	rs672601324(A;A)
Alt	rs672601324(A;A)
Reference	Rs672601324(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.149814155G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011805.11,