rs794727357
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794727357(A;T) |
Make rs794727357(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 32472311 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs794727357 |
dbSNP (classic) | rs794727357 |
ClinGen | rs794727357 |
ebi | rs794727357 |
HLI | rs794727357 |
Exac | rs794727357 |
Gnomad | rs794727357 |
Varsome | rs794727357 |
LitVar | rs794727357 |
Map | rs794727357 |
PheGenI | rs794727357 |
Biobank | rs794727357 |
1000 genomes | rs794727357 |
hgdp | rs794727357 |
ensembl | rs794727357 |
geneview | rs794727357 |
scholar | rs794727357 |
rs794727357 | |
pharmgkb | rs794727357 |
gwascentral | rs794727357 |
openSNP | rs794727357 |
23andMe | rs794727357 |
SNPshot | rs794727357 |
SNPdbe | rs794727357 |
MSV3d | rs794727357 |
GWAS Ctlg | rs794727357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727357(C;C) rs794727357(T;T) |
Alt | rs794727357(C;C) rs794727357(T;T) |
Reference | Rs794727357(A;A) |
Significance | Pathogenic |
Disease | Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Becker muscular dystrophy Dilated cardiomyopathy 3B Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32490428T>A; NC_000023.10:g.32490428T>G |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000176296.1, RCV000176297.1, RCV000176298.1, RCV000201191.1, |