rs796065325
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs796065325(AA;T) |
Make rs796065325(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 33211298 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs796065325 |
dbSNP (classic) | rs796065325 |
ClinGen | rs796065325 |
ebi | rs796065325 |
HLI | rs796065325 |
Exac | rs796065325 |
Gnomad | rs796065325 |
Varsome | rs796065325 |
LitVar | rs796065325 |
Map | rs796065325 |
PheGenI | rs796065325 |
Biobank | rs796065325 |
1000 genomes | rs796065325 |
hgdp | rs796065325 |
ensembl | rs796065325 |
geneview | rs796065325 |
scholar | rs796065325 |
rs796065325 | |
pharmgkb | rs796065325 |
gwascentral | rs796065325 |
openSNP | rs796065325 |
23andMe | rs796065325 |
SNPshot | rs796065325 |
SNPdbe | rs796065325 |
MSV3d | rs796065325 |
GWAS Ctlg | rs796065325 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065325(T;T) |
Alt | rs796065325(T;T) |
Reference | Rs796065325(AA;AA) |
Significance | Pathogenic |
Disease | Becker muscular dystrophy Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Becker muscular dystrophy Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.33229415_33229416delTTinsA |
CLNSRC | |
CLNACC | RCV000173318.1, RCV000173319.1, |