rs121909244
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121909244(C;T) |
| Make rs121909244(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 12434111 |
| Gene | PPARG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909244 |
| dbSNP (classic) | rs121909244 |
| ClinGen | rs121909244 |
| ebi | rs121909244 |
| HLI | rs121909244 |
| Exac | rs121909244 |
| Gnomad | rs121909244 |
| Varsome | rs121909244 |
| LitVar | rs121909244 |
| Map | rs121909244 |
| PheGenI | rs121909244 |
| Biobank | rs121909244 |
| 1000 genomes | rs121909244 |
| hgdp | rs121909244 |
| ensembl | rs121909244 |
| geneview | rs121909244 |
| scholar | rs121909244 |
| rs121909244 | |
| pharmgkb | rs121909244 |
| gwascentral | rs121909244 |
| openSNP | rs121909244 |
| 23andMe | rs121909244 |
| SNPshot | rs121909244 |
| SNPdbe | rs121909244 |
| MSV3d | rs121909244 |
| GWAS Ctlg | rs121909244 |
| Max Magnitude | 0 |
aka c.1484C>T (p.Pro495Leu or P495L)
| ClinVar | |
|---|---|
| Risk | rs121909244(T;T) |
| Alt | rs121909244(T;T) |
| Reference | Rs121909244(C;C) |
| Significance | Pathogenic |
| Disease | Familial partial lipodystrophy 3 Diabetes Mellitus Familial partial lipodystrophy Obesity |
| Variation | info |
| Gene | PPARG |
| CLNDBN | Familial partial lipodystrophy 3 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Familial partial lipodystrophy Obesity |
| Reversed | 0 |
| HGVS | NC_000003.11:g.12475610C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008612.3, RCV000288354.1, RCV000343316.1, RCV000382908.1, |
