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rs74315367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315367(C;G)
Make rs74315367(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position17024025
GeneSDHB
is asnp
is mentioned by
dbSNPrs74315367
ebirs74315367
HLIrs74315367
Exacrs74315367
Varsomers74315367
Maprs74315367
PheGenIrs74315367
hapmaprs74315367
1000 genomesrs74315367
hgdprs74315367
ensemblrs74315367
gopubmedrs74315367
geneviewrs74315367
scholarrs74315367
googlers74315367
pharmgkbrs74315367
gwascentralrs74315367
openSNPrs74315367
23andMers74315367
23andMe allrs74315367
SNP Nexus

SNPshotrs74315367
SNPdbers74315367
MSV3drs74315367
GWAS Ctlgrs74315367
Max Magnitude0
OMIM185470
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315367(G;G)
Alt rs74315367(G;G)
Reference rs74315367(C;C)
Significance Pathogenic
Disease Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene SDHB
CLNDBN Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000001.10:g.17350520G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013617.23, RCV000030623.2, RCV000213984.1,


[PMID 18419] Exsheathment of the infective larva of Labiostrongylus eugenii, a nematode parasite of the Kangaroo Island wallaby Macropus eugenii.


[PMID 14715873] A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.


[PMID 14974914] Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.


[PMID 17102084] The occurrence of SDHB gene mutations in pheochromocytoma.


[PMID 18519664] Cells silenced for SDHB expression display characteristic features of the tumor phenotype.


[PMID 19802898] Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.