rs45512692
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 6.3 | Tuberous Sclerosis Complex |
| Make rs45512692(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 2048649 |
| Gene | NTHL1, TSC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45512692 |
| dbSNP (classic) | rs45512692 |
| ClinGen | rs45512692 |
| ebi | rs45512692 |
| HLI | rs45512692 |
| Exac | rs45512692 |
| Gnomad | rs45512692 |
| Varsome | rs45512692 |
| LitVar | rs45512692 |
| Map | rs45512692 |
| PheGenI | rs45512692 |
| Biobank | rs45512692 |
| 1000 genomes | rs45512692 |
| hgdp | rs45512692 |
| ensembl | rs45512692 |
| geneview | rs45512692 |
| scholar | rs45512692 |
| rs45512692 | |
| pharmgkb | rs45512692 |
| gwascentral | rs45512692 |
| openSNP | rs45512692 |
| 23andMe | rs45512692 |
| SNPshot | rs45512692 |
| SNPdbe | rs45512692 |
| MSV3d | rs45512692 |
| GWAS Ctlg | rs45512692 |
| Max Magnitude | 6.3 |
| ClinVar | |
|---|---|
| Risk | rs45512692(T;T) |
| Alt | rs45512692(T;T) |
| Reference | Rs45512692(A;A) |
| Significance | Pathogenic |
| Disease | Tuberous sclerosis 2 Tuberous sclerosis syndrome |
| Variation | info |
| Gene | NTHL1 TSC2 |
| CLNDBN | Tuberous sclerosis 2 Tuberous sclerosis syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2098650A>T |
| CLNSRC | OMIM Allelic Variant Tuberous sclerosis database (TSC2) |
| CLNACC | RCV000013202.16, RCV000042837.2, |
[PMID 8825048
] Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
