rs137854074
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.3 | Tuberous Sclerosis Complex |
| (C;C) | 0 | common in clinvar |
| Make rs137854074(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 16 |
| Position | 2079667 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854074 |
| dbSNP (classic) | rs137854074 |
| ClinGen | rs137854074 |
| ebi | rs137854074 |
| HLI | rs137854074 |
| Exac | rs137854074 |
| Gnomad | rs137854074 |
| Varsome | rs137854074 |
| LitVar | rs137854074 |
| Map | rs137854074 |
| PheGenI | rs137854074 |
| Biobank | rs137854074 |
| 1000 genomes | rs137854074 |
| hgdp | rs137854074 |
| ensembl | rs137854074 |
| geneview | rs137854074 |
| scholar | rs137854074 |
| rs137854074 | |
| pharmgkb | rs137854074 |
| gwascentral | rs137854074 |
| openSNP | rs137854074 |
| 23andMe | rs137854074 |
| SNPshot | rs137854074 |
| SNPdbe | rs137854074 |
| MSV3d | rs137854074 |
| GWAS Ctlg | rs137854074 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854074(A;A) rs137854074(T;T) |
| Alt | rs137854074(A;A) rs137854074(T;T) |
| Reference | Rs137854074(C;C) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis syndrome not provided Tuberous sclerosis 2 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2129668C>A; NC_000016.9:g.2129668C>T |
| CLNSRC | Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000043094.2, RCV000414024.1, RCV000462249.1, |
