rs398123273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCCTG;CCCTG) | 0 | common in clinvar |
(CCTGC;CCTGC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs398123273(-;-) |
Make rs398123273(-;CCTGC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 150641335 |
Gene | MTM1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123273 |
dbSNP (classic) | rs398123273 |
ClinGen | rs398123273 |
ebi | rs398123273 |
HLI | rs398123273 |
Exac | rs398123273 |
Gnomad | rs398123273 |
Varsome | rs398123273 |
LitVar | rs398123273 |
Map | rs398123273 |
PheGenI | rs398123273 |
Biobank | rs398123273 |
1000 genomes | rs398123273 |
hgdp | rs398123273 |
ensembl | rs398123273 |
geneview | rs398123273 |
scholar | rs398123273 |
rs398123273 | |
pharmgkb | rs398123273 |
gwascentral | rs398123273 |
openSNP | rs398123273 |
23andMe | rs398123273 |
SNPshot | rs398123273 |
SNPdbe | rs398123273 |
MSV3d | rs398123273 |
GWAS Ctlg | rs398123273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123273(-;-) |
Alt | rs398123273(-;-) |
Reference | Rs398123273(CCCTG;CCCTG) |
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.149809808_149809812delCCTGC |
CLNSRC | ClinVar |
CLNACC | RCV000078435.4, RCV000293067.1, |