rs118203388
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.3 | Tuberous Sclerosis Complex |
| (C;C) | 0 | common in clinvar |
| Make rs118203388(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 132923361 |
| Gene | TSC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203388 |
| dbSNP (classic) | rs118203388 |
| ClinGen | rs118203388 |
| ebi | rs118203388 |
| HLI | rs118203388 |
| Exac | rs118203388 |
| Gnomad | rs118203388 |
| Varsome | rs118203388 |
| LitVar | rs118203388 |
| Map | rs118203388 |
| PheGenI | rs118203388 |
| Biobank | rs118203388 |
| 1000 genomes | rs118203388 |
| hgdp | rs118203388 |
| ensembl | rs118203388 |
| geneview | rs118203388 |
| scholar | rs118203388 |
| rs118203388 | |
| pharmgkb | rs118203388 |
| gwascentral | rs118203388 |
| openSNP | rs118203388 |
| 23andMe | rs118203388 |
| SNPshot | rs118203388 |
| SNPdbe | rs118203388 |
| MSV3d | rs118203388 |
| GWAS Ctlg | rs118203388 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs118203388(A;A) |
| Alt | rs118203388(A;A) |
| Reference | Rs118203388(C;C) |
| Significance | Pathogenic |
| Disease | Lymphangiomyomatosis |
| Variation | info |
| Gene | TSC1 |
| CLNDBN | Lymphangiomyomatosis |
| Reversed | 1 |
| HGVS | NC_000009.11:g.135798748G>T |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC1) |
| CLNACC | RCV000005408.4, |
[PMID 11829138] Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
