rs587781232
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTAAAACAAA;GTAAAACAAA) | 0 | common in clinvar |
Make rs587781232(-;-) |
Make rs587781232(-;GTAAAACAAA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 25339131 |
is a | snp |
is | mentioned by |
dbSNP | rs587781232 |
dbSNP (classic) | rs587781232 |
ClinGen | rs587781232 |
ebi | rs587781232 |
HLI | rs587781232 |
Exac | rs587781232 |
Gnomad | rs587781232 |
Varsome | rs587781232 |
LitVar | rs587781232 |
Map | rs587781232 |
PheGenI | rs587781232 |
Biobank | rs587781232 |
1000 genomes | rs587781232 |
hgdp | rs587781232 |
ensembl | rs587781232 |
geneview | rs587781232 |
scholar | rs587781232 |
rs587781232 | |
pharmgkb | rs587781232 |
gwascentral | rs587781232 |
openSNP | rs587781232 |
23andMe | rs587781232 |
SNPshot | rs587781232 |
SNPdbe | rs587781232 |
MSV3d | rs587781232 |
GWAS Ctlg | rs587781232 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781232(-;-) |
Alt | rs587781232(-;-) |
Reference | Rs587781232(GTAAAACAAA;GTAAAACAAA) |
Significance | Pathogenic |
Disease | Angelman syndrome not specified |
Variation | info |
Gene | |
CLNDBN | Angelman syndrome not specified |
Reversed | 1 |
HGVS | NC_000015.9:g.25584278_25584287delTTTGTTTTAC |
CLNSRC | |
CLNACC | RCV000144308.1, RCV000192645.1, |