rs587784515
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587784515(A;A) |
Make rs587784515(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25360477 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs587784515 |
dbSNP (classic) | rs587784515 |
ClinGen | rs587784515 |
ebi | rs587784515 |
HLI | rs587784515 |
Exac | rs587784515 |
Gnomad | rs587784515 |
Varsome | rs587784515 |
LitVar | rs587784515 |
Map | rs587784515 |
PheGenI | rs587784515 |
Biobank | rs587784515 |
1000 genomes | rs587784515 |
hgdp | rs587784515 |
ensembl | rs587784515 |
geneview | rs587784515 |
scholar | rs587784515 |
rs587784515 | |
pharmgkb | rs587784515 |
gwascentral | rs587784515 |
openSNP | rs587784515 |
23andMe | rs587784515 |
SNPshot | rs587784515 |
SNPdbe | rs587784515 |
MSV3d | rs587784515 |
GWAS Ctlg | rs587784515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784515(A;A) |
Alt | rs587784515(A;A) |
Reference | Rs587784515(T;T) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25605624A>T |
CLNSRC | |
CLNACC | RCV000147867.1, |