rs587780567
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs587780567(-;-) |
Make rs587780567(-;TA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25375502 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs587780567 |
dbSNP (classic) | rs587780567 |
ClinGen | rs587780567 |
ebi | rs587780567 |
HLI | rs587780567 |
Exac | rs587780567 |
Gnomad | rs587780567 |
Varsome | rs587780567 |
LitVar | rs587780567 |
Map | rs587780567 |
PheGenI | rs587780567 |
Biobank | rs587780567 |
1000 genomes | rs587780567 |
hgdp | rs587780567 |
ensembl | rs587780567 |
geneview | rs587780567 |
scholar | rs587780567 |
rs587780567 | |
pharmgkb | rs587780567 |
gwascentral | rs587780567 |
openSNP | rs587780567 |
23andMe | rs587780567 |
SNPshot | rs587780567 |
SNPdbe | rs587780567 |
MSV3d | rs587780567 |
GWAS Ctlg | rs587780567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780567(-;-) |
Alt | rs587780567(-;-) |
Reference | Rs587780567(TA;TA) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25620649_25620650delTA |
CLNSRC | |
CLNACC | RCV000144540.1, |