rs797044503
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs797044503(-;-) |
Make rs797044503(-;GT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 150660432 |
Gene | MTM1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044503 |
dbSNP (classic) | rs797044503 |
ClinGen | rs797044503 |
ebi | rs797044503 |
HLI | rs797044503 |
Exac | rs797044503 |
Gnomad | rs797044503 |
Varsome | rs797044503 |
LitVar | rs797044503 |
Map | rs797044503 |
PheGenI | rs797044503 |
Biobank | rs797044503 |
1000 genomes | rs797044503 |
hgdp | rs797044503 |
ensembl | rs797044503 |
geneview | rs797044503 |
scholar | rs797044503 |
rs797044503 | |
pharmgkb | rs797044503 |
gwascentral | rs797044503 |
openSNP | rs797044503 |
23andMe | rs797044503 |
SNPshot | rs797044503 |
SNPdbe | rs797044503 |
MSV3d | rs797044503 |
GWAS Ctlg | rs797044503 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044503(-;-) |
Alt | rs797044503(-;-) |
Reference | Rs797044503(GT;GT) |
Significance | Pathogenic |
Disease | not provided Severe X-linked myotubular myopathy |
Variation | info |
Gene | MTM1 |
CLNDBN | not provided Severe X-linked myotubular myopathy |
Reversed | 0 |
HGVS | NC_000023.10:g.149828905_149828906delGT |
CLNSRC | |
CLNACC | RCV000153518.3, RCV000388294.1, |