rs80338844
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| Make rs80338844(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 112088939 |
| Gene | SDHD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338844 |
| dbSNP (classic) | rs80338844 |
| ClinGen | rs80338844 |
| ebi | rs80338844 |
| HLI | rs80338844 |
| Exac | rs80338844 |
| Gnomad | rs80338844 |
| Varsome | rs80338844 |
| LitVar | rs80338844 |
| Map | rs80338844 |
| PheGenI | rs80338844 |
| Biobank | rs80338844 |
| 1000 genomes | rs80338844 |
| hgdp | rs80338844 |
| ensembl | rs80338844 |
| geneview | rs80338844 |
| scholar | rs80338844 |
| rs80338844 | |
| pharmgkb | rs80338844 |
| gwascentral | rs80338844 |
| openSNP | rs80338844 |
| 23andMe | rs80338844 |
| SNPshot | rs80338844 |
| SNPdbe | rs80338844 |
| MSV3d | rs80338844 |
| GWAS Ctlg | rs80338844 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs80338844(T;T) |
| Alt | rs80338844(T;T) |
| Reference | Rs80338844(C;C) |
| Significance | Pathogenic |
| Disease | Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paragangliomas 1 with sensorineural hearing loss Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | SDHD |
| CLNDBN | Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paragangliomas 1 with sensorineural hearing loss Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.111959663C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007303.2, RCV000007304.4, RCV000020519.1, RCV000023206.2, RCV000162448.3, RCV000216073.2, RCV000234438.2, |
[PMID 11391] The estimation of pancreatic lipase--a brief review.
[PMID 10657297] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
[PMID 11343322] Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
[PMID 11391796] Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.
[PMID 11897817
] Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
[PMID 12811540] Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
