rs794727738
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs794727738(-;-) |
Make rs794727738(-;CA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 25356827 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs794727738 |
dbSNP (classic) | rs794727738 |
ClinGen | rs794727738 |
ebi | rs794727738 |
HLI | rs794727738 |
Exac | rs794727738 |
Gnomad | rs794727738 |
Varsome | rs794727738 |
LitVar | rs794727738 |
Map | rs794727738 |
PheGenI | rs794727738 |
Biobank | rs794727738 |
1000 genomes | rs794727738 |
hgdp | rs794727738 |
ensembl | rs794727738 |
geneview | rs794727738 |
scholar | rs794727738 |
rs794727738 | |
pharmgkb | rs794727738 |
gwascentral | rs794727738 |
openSNP | rs794727738 |
23andMe | rs794727738 |
SNPshot | rs794727738 |
SNPdbe | rs794727738 |
MSV3d | rs794727738 |
GWAS Ctlg | rs794727738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727738(-;-) |
Alt | rs794727738(-;-) |
Reference | Rs794727738(CA;CA) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25601974_25601975delTG |
CLNSRC | |
CLNACC | RCV000179007.1, |