rs398123949
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs398123949(-;-) |
Make rs398123949(-;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32816585 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123949 |
dbSNP (classic) | rs398123949 |
ClinGen | rs398123949 |
ebi | rs398123949 |
HLI | rs398123949 |
Exac | rs398123949 |
Gnomad | rs398123949 |
Varsome | rs398123949 |
LitVar | rs398123949 |
Map | rs398123949 |
PheGenI | rs398123949 |
Biobank | rs398123949 |
1000 genomes | rs398123949 |
hgdp | rs398123949 |
ensembl | rs398123949 |
geneview | rs398123949 |
scholar | rs398123949 |
rs398123949 | |
pharmgkb | rs398123949 |
gwascentral | rs398123949 |
openSNP | rs398123949 |
23andMe | rs398123949 |
SNPshot | rs398123949 |
SNPdbe | rs398123949 |
MSV3d | rs398123949 |
GWAS Ctlg | rs398123949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123949(-;-) |
Alt | rs398123949(-;-) |
Reference | Rs398123949(AA;AA) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32834702_32834703delTT |
CLNSRC | ClinVar |
CLNACC | RCV000080603.4, RCV000179428.1, RCV000179429.1, |