rs587780569
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAAG;AAAG) | 0 | common in clinvar |
Make rs587780569(-;-) |
Make rs587780569(-;AAAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25375486 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs587780569 |
dbSNP (classic) | rs587780569 |
ClinGen | rs587780569 |
ebi | rs587780569 |
HLI | rs587780569 |
Exac | rs587780569 |
Gnomad | rs587780569 |
Varsome | rs587780569 |
LitVar | rs587780569 |
Map | rs587780569 |
PheGenI | rs587780569 |
Biobank | rs587780569 |
1000 genomes | rs587780569 |
hgdp | rs587780569 |
ensembl | rs587780569 |
geneview | rs587780569 |
scholar | rs587780569 |
rs587780569 | |
pharmgkb | rs587780569 |
gwascentral | rs587780569 |
openSNP | rs587780569 |
23andMe | rs587780569 |
SNPshot | rs587780569 |
SNPdbe | rs587780569 |
MSV3d | rs587780569 |
GWAS Ctlg | rs587780569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780569(-;-) |
Alt | rs587780569(-;-) |
Reference | Rs587780569(AAAG;AAAG) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25620633_25620636delCTTT |
CLNSRC | |
CLNACC | RCV000144542.1, |