rs13337626
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs13337626(C;C) |
| Make rs13337626(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2075833 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13337626 |
| dbSNP (classic) | rs13337626 |
| ClinGen | rs13337626 |
| ebi | rs13337626 |
| HLI | rs13337626 |
| Exac | rs13337626 |
| Gnomad | rs13337626 |
| Varsome | rs13337626 |
| LitVar | rs13337626 |
| Map | rs13337626 |
| PheGenI | rs13337626 |
| Biobank | rs13337626 |
| 1000 genomes | rs13337626 |
| hgdp | rs13337626 |
| ensembl | rs13337626 |
| geneview | rs13337626 |
| scholar | rs13337626 |
| rs13337626 | |
| pharmgkb | rs13337626 |
| gwascentral | rs13337626 |
| openSNP | rs13337626 |
| 23andMe | rs13337626 |
| SNPshot | rs13337626 |
| SNPdbe | rs13337626 |
| MSV3d | rs13337626 |
| GWAS Ctlg | rs13337626 |
| GMAF | 0.06198 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21751195
] Interactions between environmental factors and polymorphisms in angiogenesis pathway genes in esophageal adenocarcinoma risk: a case-only study
| ClinVar | |
|---|---|
| Risk | rs13337626(C;C) |
| Alt | rs13337626(C;C) |
| Reference | Rs13337626(T;T) |
| Significance | Other |
| Disease | Tuberous sclerosis syndrome Lymphangiomyomatosis not specified Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | Tuberous sclerosis syndrome Lymphangiomyomatosis not specified Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2125834T>C |
| CLNSRC | Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000042833.3, RCV000055364.1, RCV000118702.5, RCV000163258.1, |
[PMID 21373201] Genetic variability of the mTOR pathway and prostate cancer risk in the European Prospective Investigation on Cancer (EPIC).
[PMID 88248] Nerve terminal proteins of the rabbit visual relay nuclei identified by axonal transport and two-dimensional gel electrophoresis.
[PMID 10533067] Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
[PMID 15595939] Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
[PMID 16114042] Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
[PMID 17304050] Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
