rs864309508
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs864309508(-;-) |
Make rs864309508(-;GT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 25356778 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs864309508 |
dbSNP (classic) | rs864309508 |
ClinGen | rs864309508 |
ebi | rs864309508 |
HLI | rs864309508 |
Exac | rs864309508 |
Gnomad | rs864309508 |
Varsome | rs864309508 |
LitVar | rs864309508 |
Map | rs864309508 |
PheGenI | rs864309508 |
Biobank | rs864309508 |
1000 genomes | rs864309508 |
hgdp | rs864309508 |
ensembl | rs864309508 |
geneview | rs864309508 |
scholar | rs864309508 |
rs864309508 | |
pharmgkb | rs864309508 |
gwascentral | rs864309508 |
openSNP | rs864309508 |
23andMe | rs864309508 |
SNPshot | rs864309508 |
SNPdbe | rs864309508 |
MSV3d | rs864309508 |
GWAS Ctlg | rs864309508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309508(-;-) |
Alt | rs864309508(-;-) |
Reference | Rs864309508(GT;GT) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25601925_25601926delAC |
CLNSRC | |
CLNACC | RCV000202543.1, |