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rs80338845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338845(G;T)
Make rs80338845(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position112088971
GeneSDHD
is asnp
is mentioned by
dbSNPrs80338845
ebirs80338845
HLIrs80338845
Exacrs80338845
Varsomers80338845
Maprs80338845
PheGenIrs80338845
hapmaprs80338845
1000 genomesrs80338845
hgdprs80338845
ensemblrs80338845
gopubmedrs80338845
geneviewrs80338845
scholarrs80338845
googlers80338845
pharmgkbrs80338845
gwascentralrs80338845
openSNPrs80338845
23andMers80338845
23andMe allrs80338845
SNP Nexus

SNPshotrs80338845
SNPdbers80338845
MSV3drs80338845
GWAS Ctlgrs80338845
Max Magnitude0
OMIM602690
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338845(T;T)
Alt rs80338845(T;T)
Reference rs80338845(G;G)
Significance Pathogenic
Disease Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paraganglioma and gastric stromal sarcoma
Variation info
Gene SDHD
CLNDBN Paragangliomas 1 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes Paraganglioma and gastric stromal sarcoma
Reversed 0
HGVS NC_000011.9:g.111959695G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007305.2, RCV000007306.2, RCV000020520.1, RCV000233773.1,


[PMID 10657297] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.


[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.