rs587781231
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs587781231(-;-) |
Make rs587781231(-;AA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25339188 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs587781231 |
dbSNP (classic) | rs587781231 |
ClinGen | rs587781231 |
ebi | rs587781231 |
HLI | rs587781231 |
Exac | rs587781231 |
Gnomad | rs587781231 |
Varsome | rs587781231 |
LitVar | rs587781231 |
Map | rs587781231 |
PheGenI | rs587781231 |
Biobank | rs587781231 |
1000 genomes | rs587781231 |
hgdp | rs587781231 |
ensembl | rs587781231 |
geneview | rs587781231 |
scholar | rs587781231 |
rs587781231 | |
pharmgkb | rs587781231 |
gwascentral | rs587781231 |
openSNP | rs587781231 |
23andMe | rs587781231 |
SNPshot | rs587781231 |
SNPdbe | rs587781231 |
MSV3d | rs587781231 |
GWAS Ctlg | rs587781231 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781231(-;-) |
Alt | rs587781231(-;-) |
Reference | Rs587781231(AA;AA) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25584335_25584336delTT |
CLNSRC | |
CLNACC | RCV000144307.1, |