rs398123992
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398123992(-;AA) |
Make rs398123992(AA;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32345957 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123992 |
dbSNP (classic) | rs398123992 |
ClinGen | rs398123992 |
ebi | rs398123992 |
HLI | rs398123992 |
Exac | rs398123992 |
Gnomad | rs398123992 |
Varsome | rs398123992 |
LitVar | rs398123992 |
Map | rs398123992 |
PheGenI | rs398123992 |
Biobank | rs398123992 |
1000 genomes | rs398123992 |
hgdp | rs398123992 |
ensembl | rs398123992 |
geneview | rs398123992 |
scholar | rs398123992 |
rs398123992 | |
pharmgkb | rs398123992 |
gwascentral | rs398123992 |
openSNP | rs398123992 |
23andMe | rs398123992 |
SNPshot | rs398123992 |
SNPdbe | rs398123992 |
MSV3d | rs398123992 |
GWAS Ctlg | rs398123992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123992(AA;AA) |
Alt | rs398123992(AA;AA) |
Reference | Rs398123992(-;-) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B |
Reversed | 1 |
HGVS | NC_000023.10:g.32364075_32364076dupTT |
CLNSRC | ClinVar |
CLNACC | RCV000080661.3, |