rs398124081
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTTC;TTTC) | 0 | common in clinvar |
Make rs398124081(-;-) |
Make rs398124081(-;TTTC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 31348558 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398124081 |
dbSNP (classic) | rs398124081 |
ClinGen | rs398124081 |
ebi | rs398124081 |
HLI | rs398124081 |
Exac | rs398124081 |
Gnomad | rs398124081 |
Varsome | rs398124081 |
LitVar | rs398124081 |
Map | rs398124081 |
PheGenI | rs398124081 |
Biobank | rs398124081 |
1000 genomes | rs398124081 |
hgdp | rs398124081 |
ensembl | rs398124081 |
geneview | rs398124081 |
scholar | rs398124081 |
rs398124081 | |
pharmgkb | rs398124081 |
gwascentral | rs398124081 |
openSNP | rs398124081 |
23andMe | rs398124081 |
SNPshot | rs398124081 |
SNPdbe | rs398124081 |
MSV3d | rs398124081 |
GWAS Ctlg | rs398124081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124081(-;-) |
Alt | rs398124081(-;-) |
Reference | Rs398124081(TTTC;TTTC) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B |
Reversed | 1 |
HGVS | NC_000023.10:g.31366675_31366678delGAAA |
CLNSRC | HGMD |
CLNACC | RCV000080822.3, |