rs587783847
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783847(C;T) |
Make rs587783847(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 150641404 |
Gene | MTM1 |
is a | snp |
is | mentioned by |
dbSNP | rs587783847 |
dbSNP (classic) | rs587783847 |
ClinGen | rs587783847 |
ebi | rs587783847 |
HLI | rs587783847 |
Exac | rs587783847 |
Gnomad | rs587783847 |
Varsome | rs587783847 |
LitVar | rs587783847 |
Map | rs587783847 |
PheGenI | rs587783847 |
Biobank | rs587783847 |
1000 genomes | rs587783847 |
hgdp | rs587783847 |
ensembl | rs587783847 |
geneview | rs587783847 |
scholar | rs587783847 |
rs587783847 | |
pharmgkb | rs587783847 |
gwascentral | rs587783847 |
openSNP | rs587783847 |
23andMe | rs587783847 |
SNPshot | rs587783847 |
SNPdbe | rs587783847 |
MSV3d | rs587783847 |
GWAS Ctlg | rs587783847 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783847(T;T) |
Alt | rs587783847(T;T) |
Reference | Rs587783847(C;C) |
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.149809877C>T |
CLNSRC | |
CLNACC | RCV000146473.1, |