rs794727862
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727862(-;-) |
Make rs794727862(-;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 32809515 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs794727862 |
dbSNP (classic) | rs794727862 |
ClinGen | rs794727862 |
ebi | rs794727862 |
HLI | rs794727862 |
Exac | rs794727862 |
Gnomad | rs794727862 |
Varsome | rs794727862 |
LitVar | rs794727862 |
Map | rs794727862 |
PheGenI | rs794727862 |
Biobank | rs794727862 |
1000 genomes | rs794727862 |
hgdp | rs794727862 |
ensembl | rs794727862 |
geneview | rs794727862 |
scholar | rs794727862 |
rs794727862 | |
pharmgkb | rs794727862 |
gwascentral | rs794727862 |
openSNP | rs794727862 |
23andMe | rs794727862 |
SNPshot | rs794727862 |
SNPdbe | rs794727862 |
MSV3d | rs794727862 |
GWAS Ctlg | rs794727862 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727862(-;-) |
Alt | rs794727862(-;-) |
Reference | Rs794727862(A;A) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B |
Reversed | 1 |
HGVS | NC_000023.10:g.32827632delT |
CLNSRC | |
CLNACC | RCV000179868.2, RCV000179869.2, RCV000179870.2, |