rs760759052
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs760759052(A;A) |
| Make rs760759052(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 218346998 |
| Gene | TGFB2, TGFB2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760759052 |
| dbSNP (classic) | rs760759052 |
| ClinGen | rs760759052 |
| ebi | rs760759052 |
| HLI | rs760759052 |
| Exac | rs760759052 |
| Gnomad | rs760759052 |
| Varsome | rs760759052 |
| LitVar | rs760759052 |
| Map | rs760759052 |
| PheGenI | rs760759052 |
| Biobank | rs760759052 |
| 1000 genomes | rs760759052 |
| hgdp | rs760759052 |
| ensembl | rs760759052 |
| geneview | rs760759052 |
| scholar | rs760759052 |
| rs760759052 | |
| pharmgkb | rs760759052 |
| gwascentral | rs760759052 |
| openSNP | rs760759052 |
| 23andMe | rs760759052 |
| SNPshot | rs760759052 |
| SNPdbe | rs760759052 |
| MSV3d | rs760759052 |
| GWAS Ctlg | rs760759052 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760759052(A;A) rs760759052(T;T) |
| Alt | rs760759052(A;A) rs760759052(T;T) |
| Reference | Rs760759052(C;C) |
| Significance | Pathogenic |
| Disease | Loeys-Dietz syndrome 4 not specified |
| Variation | info |
| Gene | TGFB2 TGFB2-AS1 |
| CLNDBN | Loeys-Dietz syndrome 4 not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.218520340C>A; NC_000001.10:g.218520340C>T |
| CLNSRC | |
| CLNACC | RCV000210467.1, RCV000428083.1, |
