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rs80338847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338847(C;C)
Make rs80338847(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112094906
GeneSDHD
is asnp
is mentioned by
dbSNPrs80338847
ebirs80338847
HLIrs80338847
Exacrs80338847
Varsomers80338847
Maprs80338847
PheGenIrs80338847
hapmaprs80338847
1000 genomesrs80338847
hgdprs80338847
ensemblrs80338847
gopubmedrs80338847
geneviewrs80338847
scholarrs80338847
googlers80338847
pharmgkbrs80338847
gwascentralrs80338847
openSNPrs80338847
23andMers80338847
23andMe allrs80338847
SNP Nexus

SNPshotrs80338847
SNPdbers80338847
MSV3drs80338847
GWAS Ctlgrs80338847
Max Magnitude0
OMIM602690
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80338847(C;C)
Alt rs80338847(C;C)
Reference rs80338847(T;T)
Significance Pathogenic
Disease Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene SDHD
CLNDBN Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 0
HGVS NC_000011.9:g.111965630T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007316.4, RCV000020523.1,


[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.