rs794729648
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs794729648(-;-) |
Make rs794729648(-;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 244855471 |
Gene | HNRNPU, SNORA100 |
is a | snp |
is | mentioned by |
dbSNP | rs794729648 |
dbSNP (classic) | rs794729648 |
ClinGen | rs794729648 |
ebi | rs794729648 |
HLI | rs794729648 |
Exac | rs794729648 |
Gnomad | rs794729648 |
Varsome | rs794729648 |
LitVar | rs794729648 |
Map | rs794729648 |
PheGenI | rs794729648 |
Biobank | rs794729648 |
1000 genomes | rs794729648 |
hgdp | rs794729648 |
ensembl | rs794729648 |
geneview | rs794729648 |
scholar | rs794729648 |
rs794729648 | |
pharmgkb | rs794729648 |
gwascentral | rs794729648 |
openSNP | rs794729648 |
23andMe | rs794729648 |
SNPshot | rs794729648 |
SNPdbe | rs794729648 |
MSV3d | rs794729648 |
GWAS Ctlg | rs794729648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729648(-;-) |
Alt | rs794729648(-;-) |
Reference | Rs794729648(AG;AG) |
Significance | Pathogenic |
Disease | Intellectual disability and seizures |
Variation | info |
Gene | SNORA100 HNRNPU |
CLNDBN | Intellectual disability and seizures |
Reversed | 1 |
HGVS | NC_000001.10:g.245018773_245018774delCT |
CLNSRC | |
CLNACC | RCV000185558.2, |