rs137854397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GCCAGCGGGTAGGGAATATGGGGCTCC;GCCAGCGGGTAGGGAATATGGGGCTCC) | 0 | common/normal |
| (GGCTCCGCCAGCGGGTAGGGAATATGG;GGCTCCGCCAGCGGGTAGGGAATATGG) | 0 | common in clinvar |
| Make rs137854397(-;-) |
| Make rs137854397(-;GCCAGCGGGTAGGGAATATGGGGCTCC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 2088318 |
| Gene | PKD1, TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854397 |
| dbSNP (classic) | rs137854397 |
| ClinGen | rs137854397 |
| ebi | rs137854397 |
| HLI | rs137854397 |
| Exac | rs137854397 |
| Gnomad | rs137854397 |
| Varsome | rs137854397 |
| LitVar | rs137854397 |
| Map | rs137854397 |
| PheGenI | rs137854397 |
| Biobank | rs137854397 |
| 1000 genomes | rs137854397 |
| hgdp | rs137854397 |
| ensembl | rs137854397 |
| geneview | rs137854397 |
| scholar | rs137854397 |
| rs137854397 | |
| pharmgkb | rs137854397 |
| gwascentral | rs137854397 |
| openSNP | rs137854397 |
| 23andMe | rs137854397 |
| SNPshot | rs137854397 |
| SNPdbe | rs137854397 |
| MSV3d | rs137854397 |
| GWAS Ctlg | rs137854397 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854397(-;-) |
| Alt | rs137854397(-;-) |
| Reference | Rs137854397(GGCTCCGCCAGCGGGTAGGGAATATGG;GGCTCCGCCAGCGGGTAGGGAATATGG) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
| Variation | info |
| Gene | TSC2 PKD1 |
| CLNDBN | Tuberous sclerosis syndrome Tuberous sclerosis 2 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2138319_2138345del27 |
| CLNSRC | Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000042626.2, RCV000201086.1, |
