rs104894360
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 7 | Noonan syndrome |
| Make rs104894360(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 25209904 |
| Gene | KRAS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894360 |
| dbSNP (classic) | rs104894360 |
| ClinGen | rs104894360 |
| ebi | rs104894360 |
| HLI | rs104894360 |
| Exac | rs104894360 |
| Gnomad | rs104894360 |
| Varsome | rs104894360 |
| LitVar | rs104894360 |
| Map | rs104894360 |
| PheGenI | rs104894360 |
| Biobank | rs104894360 |
| 1000 genomes | rs104894360 |
| hgdp | rs104894360 |
| ensembl | rs104894360 |
| geneview | rs104894360 |
| scholar | rs104894360 |
| rs104894360 | |
| pharmgkb | rs104894360 |
| gwascentral | rs104894360 |
| openSNP | rs104894360 |
| 23andMe | rs104894360 |
| SNPshot | rs104894360 |
| SNPdbe | rs104894360 |
| MSV3d | rs104894360 |
| GWAS Ctlg | rs104894360 |
| Max Magnitude | 7 |
aka c.458A>T (p.Asp153Val)
23andMe name: i5002716
| ClinVar | |
|---|---|
| Risk | rs104894360(G;G) rs104894360(T;T) |
| Alt | rs104894360(G;G) rs104894360(T;T) |
| Reference | Rs104894360(A;A) |
| Significance | Pathogenic |
| Disease | Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Rasopathy not provided Noonan syndrome |
| Variation | info |
| Gene | KRAS |
| CLNDBN | Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Rasopathy not provided Noonan syndrome |
| Reversed | 1 |
| HGVS | NC_000012.11:g.25362838T>A; NC_000012.11:g.25362838T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013417.23, RCV000013418.29, RCV000157940.1, RCV000212501.1, RCV000038274.2, RCV000157939.1, |
