rs8708
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs8708(A;G) |
| Make rs8708(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 10637926 |
| Gene | JAG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8708 |
| dbSNP (classic) | rs8708 |
| ClinGen | rs8708 |
| ebi | rs8708 |
| HLI | rs8708 |
| Exac | rs8708 |
| Gnomad | rs8708 |
| Varsome | rs8708 |
| LitVar | rs8708 |
| Map | rs8708 |
| PheGenI | rs8708 |
| Biobank | rs8708 |
| 1000 genomes | rs8708 |
| hgdp | rs8708 |
| ensembl | rs8708 |
| geneview | rs8708 |
| scholar | rs8708 |
| rs8708 | |
| pharmgkb | rs8708 |
| gwascentral | rs8708 |
| openSNP | rs8708 |
| 23andMe | rs8708 |
| SNPshot | rs8708 |
| SNPdbe | rs8708 |
| MSV3d | rs8708 |
| GWAS Ctlg | rs8708 |
| GMAF | 0.478 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22336710] Modeling SNP mediated differential targeting of homologous 3'UTR by microRNA
[PMID 21103979] Association analysis of Notch pathway signalling genes in diabetic nephropathy.
| ClinVar | |
|---|---|
| Risk | rs8708(G;G) |
| Alt | rs8708(G;G) |
| Reference | Rs8708(A;A) |
| Significance | Non-pathogenic |
| Disease | Arteriohepatic dysplasia Isolated Nonsyndromic Congenital Heart Disease |
| Variation | info |
| Gene | JAG1 |
| CLNDBN | Arteriohepatic dysplasia Isolated Nonsyndromic Congenital Heart Disease |
| Reversed | 1 |
| HGVS | NC_000020.10:g.10618574T>C |
| CLNSRC | |
| CLNACC | RCV000300443.1, RCV000366943.1, |
[PMID 29973002] [Association between polymorphism in notch signaling pathway and lung cancer risk].
