rs398123962
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAAGT;GAAGT) | 0 | common in clinvar |
Make rs398123962(-;-) |
Make rs398123962(-;GAAGT) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32386435 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123962 |
dbSNP (classic) | rs398123962 |
ClinGen | rs398123962 |
ebi | rs398123962 |
HLI | rs398123962 |
Exac | rs398123962 |
Gnomad | rs398123962 |
Varsome | rs398123962 |
LitVar | rs398123962 |
Map | rs398123962 |
PheGenI | rs398123962 |
Biobank | rs398123962 |
1000 genomes | rs398123962 |
hgdp | rs398123962 |
ensembl | rs398123962 |
geneview | rs398123962 |
scholar | rs398123962 |
rs398123962 | |
pharmgkb | rs398123962 |
gwascentral | rs398123962 |
openSNP | rs398123962 |
23andMe | rs398123962 |
SNPshot | rs398123962 |
SNPdbe | rs398123962 |
MSV3d | rs398123962 |
GWAS Ctlg | rs398123962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123962(-;-) |
Alt | rs398123962(-;-) |
Reference | Rs398123962(GAAGT;GAAGT) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not provided |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.32404552_32404556delACTTC |
CLNSRC | HGMD |
CLNACC | RCV000080624.4, RCV000177743.1, RCV000177744.1, RCV000493588.1, |