rs45517148
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 6.3 | Tuberous Sclerosis Complex |
| Make rs45517148(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2060790 |
| Gene | TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45517148 |
| dbSNP (classic) | rs45517148 |
| ClinGen | rs45517148 |
| ebi | rs45517148 |
| HLI | rs45517148 |
| Exac | rs45517148 |
| Gnomad | rs45517148 |
| Varsome | rs45517148 |
| LitVar | rs45517148 |
| Map | rs45517148 |
| PheGenI | rs45517148 |
| Biobank | rs45517148 |
| 1000 genomes | rs45517148 |
| hgdp | rs45517148 |
| ensembl | rs45517148 |
| geneview | rs45517148 |
| scholar | rs45517148 |
| rs45517148 | |
| pharmgkb | rs45517148 |
| gwascentral | rs45517148 |
| openSNP | rs45517148 |
| 23andMe | rs45517148 |
| SNPshot | rs45517148 |
| SNPdbe | rs45517148 |
| MSV3d | rs45517148 |
| GWAS Ctlg | rs45517148 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs45517148(A;A) rs45517148(C;C) rs45517148(T;T) |
| Alt | rs45517148(A;A) rs45517148(C;C) rs45517148(T;T) |
| Reference | Rs45517148(G;G) |
| Significance | Pathogenic |
| Disease | not specified Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis |
| Variation | info |
| Gene | TSC2 |
| CLNDBN | not specified Tuberous sclerosis 2 Tuberous sclerosis syndrome Lymphangiomyomatosis |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2110791G>A; NC_000016.9:g.2110791G>T |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000189975.1, RCV000230966.1, RCV000042986.2, RCV000055263.5, |
[PMID 10823953
] Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.
[PMID 11112665] Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
