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rs33927012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33927012(C;C)
Make rs33927012(C;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position17027802
GeneSDHB
is asnp
is mentioned by
dbSNPrs33927012
ebirs33927012
HLIrs33927012
Exacrs33927012
Varsomers33927012
Maprs33927012
PheGenIrs33927012
hapmaprs33927012
1000 genomesrs33927012
hgdprs33927012
ensemblrs33927012
gopubmedrs33927012
geneviewrs33927012
scholarrs33927012
googlers33927012
pharmgkbrs33927012
gwascentralrs33927012
openSNPrs33927012
23andMers33927012
23andMe allrs33927012
SNP Nexus

SNPshotrs33927012
SNPdbers33927012
MSV3drs33927012
GWAS Ctlgrs33927012
GMAF0.007805
Max Magnitude0
OMIM185470
Desc
Variant0015
Relatedalso


ClinVar
Risk rs33927012(C;C)
Alt rs33927012(C;C)
Reference rs33927012(T;T)
Significance Other
Disease Cowden syndrome 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes not provided not specified Hereditary cancer-predisposing syndrome Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma
Variation info
Gene SDHB
CLNDBN Cowden syndrome 2 Hereditary Paraganglioma-Pheochromocytoma Syndromes not provided not specified Hereditary cancer-predisposing syndrome Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma
Reversed 1
HGVS NC_000001.10:g.17354297A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013633.19, RCV000030622.2, RCV000034688.2, RCV000122002.1, RCV000132153.2, RCV000202946.1, RCV000206861.2,



[PMID 17298] Immunologic studies and clinical follow-up HBsAg-positive polyarteritis nodosa.


[PMID 16912137] High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.


[PMID 17639058] Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.


[PMID 18551016] High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.


[PMID 18678321OA-icon.png] Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.


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


GET Evidence
SDHB-S163P
aa_change Ser163Pro
aa_change_short S163P
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0104109
summary We evaluate as uncertain but presumed benign. One report linked this variant to Cowden-like syndromes, but the significance of their findings is unclear and other reports treat this as a non-pathological variation.