rs398124440
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTTA;CTTA) | 0 | common in clinvar |
Make rs398124440(-;-) |
Make rs398124440(-;CTTA) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 25339190 |
Gene | UBE3A |
is a | snp |
is | mentioned by |
dbSNP | rs398124440 |
dbSNP (classic) | rs398124440 |
ClinGen | rs398124440 |
ebi | rs398124440 |
HLI | rs398124440 |
Exac | rs398124440 |
Gnomad | rs398124440 |
Varsome | rs398124440 |
LitVar | rs398124440 |
Map | rs398124440 |
PheGenI | rs398124440 |
Biobank | rs398124440 |
1000 genomes | rs398124440 |
hgdp | rs398124440 |
ensembl | rs398124440 |
geneview | rs398124440 |
scholar | rs398124440 |
rs398124440 | |
pharmgkb | rs398124440 |
gwascentral | rs398124440 |
openSNP | rs398124440 |
23andMe | rs398124440 |
SNPshot | rs398124440 |
SNPdbe | rs398124440 |
MSV3d | rs398124440 |
GWAS Ctlg | rs398124440 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124440(-;-) |
Alt | rs398124440(-;-) |
Reference | Rs398124440(CTTA;CTTA) |
Significance | Pathogenic |
Disease | not provided Angelman syndrome |
Variation | info |
Gene | UBE3A |
CLNDBN | not provided Angelman syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.25584337_25584340delTAAG |
CLNSRC | ClinVar |
CLNACC | RCV000082347.3, RCV000173915.1, |