rs786200996
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786200996(-;CT) |
Make rs786200996(CT;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 25371627 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs786200996 |
dbSNP (classic) | rs786200996 |
ClinGen | rs786200996 |
ebi | rs786200996 |
HLI | rs786200996 |
Exac | rs786200996 |
Gnomad | rs786200996 |
Varsome | rs786200996 |
LitVar | rs786200996 |
Map | rs786200996 |
PheGenI | rs786200996 |
Biobank | rs786200996 |
1000 genomes | rs786200996 |
hgdp | rs786200996 |
ensembl | rs786200996 |
geneview | rs786200996 |
scholar | rs786200996 |
rs786200996 | |
pharmgkb | rs786200996 |
gwascentral | rs786200996 |
openSNP | rs786200996 |
23andMe | rs786200996 |
SNPshot | rs786200996 |
SNPdbe | rs786200996 |
MSV3d | rs786200996 |
GWAS Ctlg | rs786200996 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200996(CT;CT) |
Alt | rs786200996(CT;CT) |
Reference | Rs786200996(-;-) |
Significance | Pathogenic |
Disease | not provided Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | not provided Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25616774_25616775insAG |
CLNSRC | |
CLNACC | RCV000154108.2, RCV000177395.1, |