rs587781210
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs587781210(-;-) |
Make rs587781210(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25356043 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs587781210 |
dbSNP (classic) | rs587781210 |
ClinGen | rs587781210 |
ebi | rs587781210 |
HLI | rs587781210 |
Exac | rs587781210 |
Gnomad | rs587781210 |
Varsome | rs587781210 |
LitVar | rs587781210 |
Map | rs587781210 |
PheGenI | rs587781210 |
Biobank | rs587781210 |
1000 genomes | rs587781210 |
hgdp | rs587781210 |
ensembl | rs587781210 |
geneview | rs587781210 |
scholar | rs587781210 |
rs587781210 | |
pharmgkb | rs587781210 |
gwascentral | rs587781210 |
openSNP | rs587781210 |
23andMe | rs587781210 |
SNPshot | rs587781210 |
SNPdbe | rs587781210 |
MSV3d | rs587781210 |
GWAS Ctlg | rs587781210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781210(-;-) |
Alt | rs587781210(-;-) |
Reference | Rs587781210(AG;AG) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25601190_25601191delCT |
CLNSRC | |
CLNACC | RCV000144284.1, |