rs587781193
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587781193(-;A) |
Make rs587781193(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25371046 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs587781193 |
dbSNP (classic) | rs587781193 |
ClinGen | rs587781193 |
ebi | rs587781193 |
HLI | rs587781193 |
Exac | rs587781193 |
Gnomad | rs587781193 |
Varsome | rs587781193 |
LitVar | rs587781193 |
Map | rs587781193 |
PheGenI | rs587781193 |
Biobank | rs587781193 |
1000 genomes | rs587781193 |
hgdp | rs587781193 |
ensembl | rs587781193 |
geneview | rs587781193 |
scholar | rs587781193 |
rs587781193 | |
pharmgkb | rs587781193 |
gwascentral | rs587781193 |
openSNP | rs587781193 |
23andMe | rs587781193 |
SNPshot | rs587781193 |
SNPdbe | rs587781193 |
MSV3d | rs587781193 |
GWAS Ctlg | rs587781193 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781193(A;A) |
Alt | rs587781193(A;A) |
Reference | Rs587781193(-;-) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25616194dupT |
CLNSRC | |
CLNACC | RCV000144267.1, |