rs863224940
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACTT;ACTT) | 0 | common in clinvar |
Make rs863224940(-;-) |
Make rs863224940(-;ACTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 25339218 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs863224940 |
dbSNP (classic) | rs863224940 |
ClinGen | rs863224940 |
ebi | rs863224940 |
HLI | rs863224940 |
Exac | rs863224940 |
Gnomad | rs863224940 |
Varsome | rs863224940 |
LitVar | rs863224940 |
Map | rs863224940 |
PheGenI | rs863224940 |
Biobank | rs863224940 |
1000 genomes | rs863224940 |
hgdp | rs863224940 |
ensembl | rs863224940 |
geneview | rs863224940 |
scholar | rs863224940 |
rs863224940 | |
pharmgkb | rs863224940 |
gwascentral | rs863224940 |
openSNP | rs863224940 |
23andMe | rs863224940 |
SNPshot | rs863224940 |
SNPdbe | rs863224940 |
MSV3d | rs863224940 |
GWAS Ctlg | rs863224940 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224940(-;-) |
Alt | rs863224940(-;-) |
Reference | Rs863224940(ACTT;ACTT) |
Significance | Probable-Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25584365_25584368delAAGT |
CLNSRC | |
CLNACC | RCV000196394.1, |