rs80338842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs80338842(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 112086910 |
Gene | SDHD, TIMM8B |
is a | snp |
is | mentioned by |
dbSNP | rs80338842 |
dbSNP (classic) | rs80338842 |
ClinGen | rs80338842 |
ebi | rs80338842 |
HLI | rs80338842 |
Exac | rs80338842 |
Gnomad | rs80338842 |
Varsome | rs80338842 |
LitVar | rs80338842 |
Map | rs80338842 |
PheGenI | rs80338842 |
Biobank | rs80338842 |
1000 genomes | rs80338842 |
hgdp | rs80338842 |
ensembl | rs80338842 |
geneview | rs80338842 |
scholar | rs80338842 |
rs80338842 | |
pharmgkb | rs80338842 |
gwascentral | rs80338842 |
openSNP | rs80338842 |
23andMe | rs80338842 |
SNPshot | rs80338842 |
SNPdbe | rs80338842 |
MSV3d | rs80338842 |
GWAS Ctlg | rs80338842 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs80338842(C;C) |
Alt | rs80338842(C;C) |
Reference | Rs80338842(G;G) |
Significance | Pathogenic |
Disease | Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TIMM8B SDHD |
CLNDBN | Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.111957634G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007315.2, RCV000020522.1, RCV000492533.1, |
[PMID 11391796] Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.
[PMID 12782822] Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?