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rs74315372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6.2 Hereditary PGL/PCC Syndrome
Make rs74315372(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position17028628
GeneSDHB
is asnp
is mentioned by
dbSNPrs74315372
dbSNP (classic)rs74315372
ClinGenrs74315372
ebirs74315372
HLIrs74315372
Exacrs74315372
Gnomadrs74315372
Varsomers74315372
LitVarrs74315372
Maprs74315372
PheGenIrs74315372
Biobankrs74315372
1000 genomesrs74315372
hgdprs74315372
ensemblrs74315372
geneviewrs74315372
scholarrs74315372
googlers74315372
pharmgkbrs74315372
gwascentralrs74315372
openSNPrs74315372
23andMers74315372
SNPshotrs74315372
SNPdbers74315372
MSV3drs74315372
GWAS Ctlgrs74315372
Max Magnitude6.2
OMIM185470
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74315372(C;C) rs74315372(G;G)
Alt rs74315372(C;C) rs74315372(G;G)
Reference Rs74315372(A;A)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma
Variation info
Gene SDHB
CLNDBN Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma
Reversed 1
HGVS NC_000001.10:g.17355123T>C; NC_000001.10:g.17355123T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000470141.1, RCV000013628.25,