rs1057515422
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 9 |
Position | 136513049 |
Gene | NOTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057515422 |
dbSNP (classic) | rs1057515422 |
ClinGen | rs1057515422 |
ebi | rs1057515422 |
HLI | rs1057515422 |
Exac | rs1057515422 |
Gnomad | rs1057515422 |
Varsome | rs1057515422 |
LitVar | rs1057515422 |
Map | rs1057515422 |
PheGenI | rs1057515422 |
Biobank | rs1057515422 |
1000 genomes | rs1057515422 |
hgdp | rs1057515422 |
ensembl | rs1057515422 |
geneview | rs1057515422 |
scholar | rs1057515422 |
rs1057515422 | |
pharmgkb | rs1057515422 |
gwascentral | rs1057515422 |
openSNP | rs1057515422 |
23andMe | rs1057515422 |
SNPshot | rs1057515422 |
SNPdbe | rs1057515422 |
MSV3d | rs1057515422 |
GWAS Ctlg | rs1057515422 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057515422(G;G) |
Alt | rs1057515422(G;G) |
Reference | Rs1057515422(C;C) |
Significance | Pathogenic |
Disease | Aortic valve disorder |
Variation | info |
Gene | NOTCH1 |
CLNDBN | Aortic valve disorder |
Reversed | 1 |
HGVS | NC_000009.11:g.139407501G>C |
CLNSRC | |
CLNACC | RCV000408651.1, |