rs398124012
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs398124012(-;-) |
Make rs398124012(-;CA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32216962 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398124012 |
dbSNP (classic) | rs398124012 |
ClinGen | rs398124012 |
ebi | rs398124012 |
HLI | rs398124012 |
Exac | rs398124012 |
Gnomad | rs398124012 |
Varsome | rs398124012 |
LitVar | rs398124012 |
Map | rs398124012 |
PheGenI | rs398124012 |
Biobank | rs398124012 |
1000 genomes | rs398124012 |
hgdp | rs398124012 |
ensembl | rs398124012 |
geneview | rs398124012 |
scholar | rs398124012 |
rs398124012 | |
pharmgkb | rs398124012 |
gwascentral | rs398124012 |
openSNP | rs398124012 |
23andMe | rs398124012 |
SNPshot | rs398124012 |
SNPdbe | rs398124012 |
MSV3d | rs398124012 |
GWAS Ctlg | rs398124012 |
Max Magnitude | 0 |
aka c.6365_6366delCA as well as c.6365_6366dupCA
ClinVar | |
---|---|
Risk | rs398124012(-;-) |
Alt | rs398124012(-;-) |
Reference | Rs398124012(CA;CA) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32235079_32235080delTG |
CLNSRC | ClinVar |
CLNACC | RCV000080698.3, RCV000313930.1, |