rs398123979
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAAA;GAAA) | 0 | common in clinvar |
Make rs398123979(-;-) |
Make rs398123979(-;GAAA) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32364609 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123979 |
dbSNP (classic) | rs398123979 |
ClinGen | rs398123979 |
ebi | rs398123979 |
HLI | rs398123979 |
Exac | rs398123979 |
Gnomad | rs398123979 |
Varsome | rs398123979 |
LitVar | rs398123979 |
Map | rs398123979 |
PheGenI | rs398123979 |
Biobank | rs398123979 |
1000 genomes | rs398123979 |
hgdp | rs398123979 |
ensembl | rs398123979 |
geneview | rs398123979 |
scholar | rs398123979 |
rs398123979 | |
pharmgkb | rs398123979 |
gwascentral | rs398123979 |
openSNP | rs398123979 |
23andMe | rs398123979 |
SNPshot | rs398123979 |
SNPdbe | rs398123979 |
MSV3d | rs398123979 |
GWAS Ctlg | rs398123979 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123979(-;-) |
Alt | rs398123979(-;-) |
Reference | Rs398123979(GAAA;GAAA) |
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.32382726_32382729delTTTC |
CLNSRC | ClinVar |
CLNACC | RCV000080643.4, RCV000177875.1, RCV000177876.1, |