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rs80338846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338846(C;C)
Make rs80338846(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112088981
GeneSDHD
is asnp
is mentioned by
dbSNPrs80338846
ebirs80338846
HLIrs80338846
Exacrs80338846
Varsomers80338846
Maprs80338846
PheGenIrs80338846
hapmaprs80338846
1000 genomesrs80338846
hgdprs80338846
ensemblrs80338846
gopubmedrs80338846
geneviewrs80338846
scholarrs80338846
googlers80338846
pharmgkbrs80338846
gwascentralrs80338846
openSNPrs80338846
23andMers80338846
23andMe allrs80338846
SNP Nexus

SNPshotrs80338846
SNPdbers80338846
MSV3drs80338846
GWAS Ctlgrs80338846
Max Magnitude0
ClinVar
Risk rs80338846(C;C)
Alt rs80338846(C;C)
Reference rs80338846(T;T)
Significance Pathogenic
Disease Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene SDHD
CLNDBN Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 0
HGVS NC_000011.9:g.111959705T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020521.1,


[PMID 11391798] Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.


[PMID 12114404] Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.