rs515726233
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs515726233(G;T) |
Make rs515726233(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 136503288 |
Gene | NOTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs515726233 |
dbSNP (classic) | rs515726233 |
ClinGen | rs515726233 |
ebi | rs515726233 |
HLI | rs515726233 |
Exac | rs515726233 |
Gnomad | rs515726233 |
Varsome | rs515726233 |
LitVar | rs515726233 |
Map | rs515726233 |
PheGenI | rs515726233 |
Biobank | rs515726233 |
1000 genomes | rs515726233 |
hgdp | rs515726233 |
ensembl | rs515726233 |
geneview | rs515726233 |
scholar | rs515726233 |
rs515726233 | |
pharmgkb | rs515726233 |
gwascentral | rs515726233 |
openSNP | rs515726233 |
23andMe | rs515726233 |
SNPshot | rs515726233 |
SNPdbe | rs515726233 |
MSV3d | rs515726233 |
GWAS Ctlg | rs515726233 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs515726233(T;T) |
Alt | rs515726233(T;T) |
Reference | Rs515726233(G;G) |
Significance | Probable-Pathogenic |
Disease | Heart |
Variation | info |
Gene | NOTCH1 |
CLNDBN | Heart, malformation of |
Reversed | 1 |
HGVS | NC_000009.11:g.139397740C>A |
CLNSRC | ClinVar |
CLNACC | RCV000128630.1, |