rs794727746
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs794727746(-;-) |
Make rs794727746(-;CC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 31819988 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs794727746 |
dbSNP (classic) | rs794727746 |
ClinGen | rs794727746 |
ebi | rs794727746 |
HLI | rs794727746 |
Exac | rs794727746 |
Gnomad | rs794727746 |
Varsome | rs794727746 |
LitVar | rs794727746 |
Map | rs794727746 |
PheGenI | rs794727746 |
Biobank | rs794727746 |
1000 genomes | rs794727746 |
hgdp | rs794727746 |
ensembl | rs794727746 |
geneview | rs794727746 |
scholar | rs794727746 |
rs794727746 | |
pharmgkb | rs794727746 |
gwascentral | rs794727746 |
openSNP | rs794727746 |
23andMe | rs794727746 |
SNPshot | rs794727746 |
SNPdbe | rs794727746 |
MSV3d | rs794727746 |
GWAS Ctlg | rs794727746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727746(-;-) |
Alt | rs794727746(-;-) |
Reference | Rs794727746(CC;CC) |
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.31838105_31838106delGG |
CLNSRC | |
CLNACC | RCV000179074.1, RCV000179075.1, |