rs33927012
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | Currently evaluated as benign in ClinVar |
| (C;T) | 1 | Currently evaluated as benign in ClinVar |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 17027802 |
| Gene | SDHB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33927012 |
| dbSNP (classic) | rs33927012 |
| ClinGen | rs33927012 |
| ebi | rs33927012 |
| HLI | rs33927012 |
| Exac | rs33927012 |
| Gnomad | rs33927012 |
| Varsome | rs33927012 |
| LitVar | rs33927012 |
| Map | rs33927012 |
| PheGenI | rs33927012 |
| Biobank | rs33927012 |
| 1000 genomes | rs33927012 |
| hgdp | rs33927012 |
| ensembl | rs33927012 |
| geneview | rs33927012 |
| scholar | rs33927012 |
| rs33927012 | |
| pharmgkb | rs33927012 |
| gwascentral | rs33927012 |
| openSNP | rs33927012 |
| 23andMe | rs33927012 |
| SNPshot | rs33927012 |
| SNPdbe | rs33927012 |
| MSV3d | rs33927012 |
| GWAS Ctlg | rs33927012 |
| GMAF | 0.007805 |
| Max Magnitude | 1 |
| ClinVar | |
|---|---|
| Risk | Rs33927012(C;C) |
| Alt | Rs33927012(C;C) |
| Reference | Rs33927012(T;T) |
| Significance | Other |
| Disease | Cowden syndrome 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes not provided not specified Hereditary cancer-predisposing syndrome Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma |
| Variation | info |
| Gene | SDHB |
| CLNDBN | Cowden syndrome 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes not provided not specified Hereditary cancer-predisposing syndrome Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma |
| Reversed | 1 |
| HGVS | NC_000001.10:g.17354297A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013633.20, RCV000030622.2, RCV000034688.3, RCV000122002.3, RCV000132153.2, RCV000202946.1, RCV000206861.3, RCV000282667.1, |
[PMID 17298] Immunologic studies and clinical follow-up HBsAg-positive polyarteritis nodosa.
[PMID 16912137] High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.
[PMID 17639058] Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.
[PMID 18551016] High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.
[PMID 18678321
] Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
[PMID 19802898] Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
