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rs80338842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338842(C;C)
Make rs80338842(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position112086910
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs80338842
ebirs80338842
HLIrs80338842
Exacrs80338842
Varsomers80338842
Maprs80338842
PheGenIrs80338842
hapmaprs80338842
1000 genomesrs80338842
hgdprs80338842
ensemblrs80338842
gopubmedrs80338842
geneviewrs80338842
scholarrs80338842
googlers80338842
pharmgkbrs80338842
gwascentralrs80338842
openSNPrs80338842
23andMers80338842
23andMe allrs80338842
SNP Nexus

SNPshotrs80338842
SNPdbers80338842
MSV3drs80338842
GWAS Ctlgrs80338842
Max Magnitude0
OMIM602690
Desc
Variant0015
Relatedalso
ClinVar
Risk rs80338842(C;C)
Alt rs80338842(C;C)
Reference rs80338842(G;G)
Significance Pathogenic
Disease Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene TIMM8B SDHD
CLNDBN Paragangliomas 1 Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 0
HGVS NC_000011.9:g.111957634G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007315.2, RCV000020522.1,


[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?