rs398123923
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.2 | Dilated cardiomyopathy |
(T;T) | 6.2 | Dilated cardiomyopathy |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 33211281 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123923 |
dbSNP (classic) | rs398123923 |
ClinGen | rs398123923 |
ebi | rs398123923 |
HLI | rs398123923 |
Exac | rs398123923 |
Gnomad | rs398123923 |
Varsome | rs398123923 |
LitVar | rs398123923 |
Map | rs398123923 |
PheGenI | rs398123923 |
Biobank | rs398123923 |
1000 genomes | rs398123923 |
hgdp | rs398123923 |
ensembl | rs398123923 |
geneview | rs398123923 |
scholar | rs398123923 |
rs398123923 | |
pharmgkb | rs398123923 |
gwascentral | rs398123923 |
openSNP | rs398123923 |
23andMe | rs398123923 |
SNPshot | rs398123923 |
SNPdbe | rs398123923 |
MSV3d | rs398123923 |
GWAS Ctlg | rs398123923 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | Rs398123923(T;T) |
Alt | Rs398123923(T;T) |
Reference | Rs398123923(G;G) |
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.33229398C>A |
CLNSRC | HGMD |
CLNACC | RCV000080542.5, RCV000173323.1, RCV000173324.1, RCV000183396.1, |