rs118203426
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 6.3 | Tuberous Sclerosis Complex |
| (T;T) | 0 | common in clinvar |
| Make rs118203426(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 132921429 |
| Gene | TSC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203426 |
| dbSNP (classic) | rs118203426 |
| ClinGen | rs118203426 |
| ebi | rs118203426 |
| HLI | rs118203426 |
| Exac | rs118203426 |
| Gnomad | rs118203426 |
| Varsome | rs118203426 |
| LitVar | rs118203426 |
| Map | rs118203426 |
| PheGenI | rs118203426 |
| Biobank | rs118203426 |
| 1000 genomes | rs118203426 |
| hgdp | rs118203426 |
| ensembl | rs118203426 |
| geneview | rs118203426 |
| scholar | rs118203426 |
| rs118203426 | |
| pharmgkb | rs118203426 |
| gwascentral | rs118203426 |
| openSNP | rs118203426 |
| 23andMe | rs118203426 |
| SNPshot | rs118203426 |
| SNPdbe | rs118203426 |
| MSV3d | rs118203426 |
| GWAS Ctlg | rs118203426 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs118203426(G;G) |
| Alt | rs118203426(G;G) |
| Reference | Rs118203426(T;T) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 1 Tuberous sclerosis syndrome |
| Variation | info |
| Gene | TSC1 |
| CLNDBN | Tuberous sclerosis 1 Tuberous sclerosis syndrome |
| Reversed | 1 |
| HGVS | NC_000009.11:g.135796816A>C |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC1) UniProtKB (protein) |
| CLNACC | RCV000005411.3, RCV000042336.2, |
[PMID 10227394
] Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
[PMID 18032745] Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
[PMID 18830229] Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
