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rs74315366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315366(C;T)
Make rs74315366(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position17033078
GeneSDHB
is asnp
is mentioned by
dbSNPrs74315366
ebirs74315366
HLIrs74315366
Exacrs74315366
Varsomers74315366
Maprs74315366
PheGenIrs74315366
hapmaprs74315366
1000 genomesrs74315366
hgdprs74315366
ensemblrs74315366
gopubmedrs74315366
geneviewrs74315366
scholarrs74315366
googlers74315366
pharmgkbrs74315366
gwascentralrs74315366
openSNPrs74315366
23andMers74315366
23andMe allrs74315366
SNP Nexus

SNPshotrs74315366
SNPdbers74315366
MSV3drs74315366
GWAS Ctlgrs74315366
GMAF0.0004591
Max Magnitude0
OMIM185470
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315366(G,T;G,T)
Alt rs74315366(G,T;G,T)
Reference rs74315366(C;C)
Significance Pathogenic
Disease Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Pheochromocytoma not provided Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome
Variation info
Gene SDHB
CLNDBN Paragangliomas 4 Hereditary Paraganglioma-Pheochromocytoma Syndromes Pheochromocytoma not provided Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.17359573G>A; NC_000001.10:g.17359573G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013616.18, RCV000030621.1, RCV000037718.2, RCV000183211.1, RCV000215883.1, RCV000165299.1,


[PMID 12364] The concentration of basic and acidic compounds in guinea-pig lung [proceedings].

[PMID 12351569] The pressure rises: update on the genetics of phaeochromocytoma.

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

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

[PMID 18382370] Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

[PMID 19454582] The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.