rs864622061
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs864622061(-;T) |
Make rs864622061(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 136504951 |
Gene | NOTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622061 |
dbSNP (classic) | rs864622061 |
ClinGen | rs864622061 |
ebi | rs864622061 |
HLI | rs864622061 |
Exac | rs864622061 |
Gnomad | rs864622061 |
Varsome | rs864622061 |
LitVar | rs864622061 |
Map | rs864622061 |
PheGenI | rs864622061 |
Biobank | rs864622061 |
1000 genomes | rs864622061 |
hgdp | rs864622061 |
ensembl | rs864622061 |
geneview | rs864622061 |
scholar | rs864622061 |
rs864622061 | |
pharmgkb | rs864622061 |
gwascentral | rs864622061 |
openSNP | rs864622061 |
23andMe | rs864622061 |
SNPshot | rs864622061 |
SNPdbe | rs864622061 |
MSV3d | rs864622061 |
GWAS Ctlg | rs864622061 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622061(T;T) |
Alt | rs864622061(T;T) |
Reference | Rs864622061(-;-) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome 5 |
Variation | info |
Gene | NOTCH1 |
CLNDBN | Adams-Oliver syndrome 5 |
Reversed | 1 |
HGVS | NC_000009.11:g.139399404dupA |
CLNSRC | |
CLNACC | RCV000204161.1, |