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rs74315369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.2 Hereditary PGL/PCC Syndrome
Make rs74315369(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position17044882
GeneSDHB
is asnp
is mentioned by
dbSNPrs74315369
dbSNP (classic)rs74315369
ClinGenrs74315369
ebirs74315369
HLIrs74315369
Exacrs74315369
Gnomadrs74315369
Varsomers74315369
LitVarrs74315369
Maprs74315369
PheGenIrs74315369
Biobankrs74315369
1000 genomesrs74315369
hgdprs74315369
ensemblrs74315369
geneviewrs74315369
scholarrs74315369
googlers74315369
pharmgkbrs74315369
gwascentralrs74315369
openSNPrs74315369
23andMers74315369
SNPshotrs74315369
SNPdbers74315369
MSV3drs74315369
GWAS Ctlgrs74315369
Max Magnitude6.2
OMIM185470
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315369(G;G) rs74315369(T;T)
Alt rs74315369(G;G) rs74315369(T;T)
Reference Rs74315369(C;C)
Significance Pathogenic
Disease Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor not specified
Variation info
Gene SDHB
CLNDBN Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor not specified
Reversed 1
HGVS NC_000001.10:g.17371377G>A; NC_000001.10:g.17371377G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013623.27, RCV000013624.20, RCV000129929.2, RCV000471400.1, RCV000148870.1, RCV000408969.1, RCV000455540.1, RCV000477264.1, RCV000492780.1,