rs111033597
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033597(C;C) |
Make rs111033597(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 25371725 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs111033597 |
dbSNP (classic) | rs111033597 |
ClinGen | rs111033597 |
ebi | rs111033597 |
HLI | rs111033597 |
Exac | rs111033597 |
Gnomad | rs111033597 |
Varsome | rs111033597 |
LitVar | rs111033597 |
Map | rs111033597 |
PheGenI | rs111033597 |
Biobank | rs111033597 |
1000 genomes | rs111033597 |
hgdp | rs111033597 |
ensembl | rs111033597 |
geneview | rs111033597 |
scholar | rs111033597 |
rs111033597 | |
pharmgkb | rs111033597 |
gwascentral | rs111033597 |
openSNP | rs111033597 |
23andMe | rs111033597 |
SNPshot | rs111033597 |
SNPdbe | rs111033597 |
MSV3d | rs111033597 |
GWAS Ctlg | rs111033597 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033597(C;C) |
Alt | rs111033597(C;C) |
Reference | Rs111033597(T;T) |
Significance | Pathogenic |
Disease | Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25616872A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008433.3, |