rs34677591
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | either just a polymorphism, or, a slight cancer predisposing mutation |
| (G;G) | 0 | common in clinvar |
| Make rs34677591(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 112086941 |
| Gene | SDHD, TIMM8B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34677591 |
| dbSNP (classic) | rs34677591 |
| ClinGen | rs34677591 |
| ebi | rs34677591 |
| HLI | rs34677591 |
| Exac | rs34677591 |
| Gnomad | rs34677591 |
| Varsome | rs34677591 |
| LitVar | rs34677591 |
| Map | rs34677591 |
| PheGenI | rs34677591 |
| Biobank | rs34677591 |
| 1000 genomes | rs34677591 |
| hgdp | rs34677591 |
| ensembl | rs34677591 |
| geneview | rs34677591 |
| scholar | rs34677591 |
| rs34677591 | |
| pharmgkb | rs34677591 |
| gwascentral | rs34677591 |
| openSNP | rs34677591 |
| 23andMe | rs34677591 |
| SNPshot | rs34677591 |
| SNPdbe | rs34677591 |
| MSV3d | rs34677591 |
| GWAS Ctlg | rs34677591 |
| GMAF | 0.005969 |
| Max Magnitude | 2 |
rs34677591, also known as c.34G>A, p.Gly12Ser and G12S, is a SNP in the SDHD gene on chromosome 11.
Defining the effect of this SNP has been difficult, and different investigators have come to different conclusions. In summary, the rare rs34677591(A) allele is either a a low-penetrance mutation or a rare polymorphism. The cancers most often mentioned in association with G12S are paragangliomas and pheochromocytomas. The G12S mutation has also been associated with increased manganese superoxide dismutase expression.
For a good summary of the studies involved, see OMIM 602690.0011.
| ClinVar | |
|---|---|
| Risk | rs34677591(A;A) |
| Alt | rs34677591(A;A) |
| Reference | Rs34677591(G;G) |
| Significance | Other |
| Disease | Cowden syndrome 3 Paragangliomas 1 Carcinoid tumor of intestine Pheochromocytoma not provided not specified Hereditary cancer-predisposing syndrome Paraganglioma and gastric stromal sarcoma |
| Variation | info |
| Gene | TIMM8B SDHD |
| CLNDBN | Cowden syndrome 3 Paragangliomas 1 Carcinoid tumor of intestine Pheochromocytoma not provided not specified Hereditary cancer-predisposing syndrome Paraganglioma and gastric stromal sarcoma |
| Reversed | 0 |
| HGVS | NC_000011.9:g.111957665G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007299.3, RCV000007300.4, RCV000007301.3, RCV000007302.4, RCV000034697.1, RCV000122006.5, RCV000162470.2, RCV000205558.3, |
