rs398123936
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398123936(A;A) |
Make rs398123936(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 32823316 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123936 |
dbSNP (classic) | rs398123936 |
ClinGen | rs398123936 |
ebi | rs398123936 |
HLI | rs398123936 |
Exac | rs398123936 |
Gnomad | rs398123936 |
Varsome | rs398123936 |
LitVar | rs398123936 |
Map | rs398123936 |
PheGenI | rs398123936 |
Biobank | rs398123936 |
1000 genomes | rs398123936 |
hgdp | rs398123936 |
ensembl | rs398123936 |
geneview | rs398123936 |
scholar | rs398123936 |
rs398123936 | |
pharmgkb | rs398123936 |
gwascentral | rs398123936 |
openSNP | rs398123936 |
23andMe | rs398123936 |
SNPshot | rs398123936 |
SNPdbe | rs398123936 |
MSV3d | rs398123936 |
GWAS Ctlg | rs398123936 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123936(A;A) |
Alt | rs398123936(A;A) |
Reference | Rs398123936(G;G) |
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.32841433C>T |
CLNSRC | |
CLNACC | RCV000080574.4, RCV000178884.1, RCV000178885.1, |