rs797046084
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797046084(-;AA) |
Make rs797046084(AA;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 25405459 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs797046084 |
dbSNP (classic) | rs797046084 |
ClinGen | rs797046084 |
ebi | rs797046084 |
HLI | rs797046084 |
Exac | rs797046084 |
Gnomad | rs797046084 |
Varsome | rs797046084 |
LitVar | rs797046084 |
Map | rs797046084 |
PheGenI | rs797046084 |
Biobank | rs797046084 |
1000 genomes | rs797046084 |
hgdp | rs797046084 |
ensembl | rs797046084 |
geneview | rs797046084 |
scholar | rs797046084 |
rs797046084 | |
pharmgkb | rs797046084 |
gwascentral | rs797046084 |
openSNP | rs797046084 |
23andMe | rs797046084 |
SNPshot | rs797046084 |
SNPdbe | rs797046084 |
MSV3d | rs797046084 |
GWAS Ctlg | rs797046084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046084(AA;AA) |
Alt | rs797046084(AA;AA) |
Reference | Rs797046084(-;-) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25650606_25650607insTT |
CLNSRC | |
CLNACC | RCV000194951.1, |