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rs74315370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Hereditary PGL/PCC Syndrome
(C;T) 6.2 Hereditary PGL/PCC Syndrome
Make rs74315370(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position17044825
GeneSDHB
is asnp
is mentioned by
dbSNPrs74315370
dbSNP (classic)rs74315370
ClinGenrs74315370
ebirs74315370
HLIrs74315370
Exacrs74315370
Gnomadrs74315370
Varsomers74315370
LitVarrs74315370
Maprs74315370
PheGenIrs74315370
Biobankrs74315370
1000 genomesrs74315370
hgdprs74315370
ensemblrs74315370
geneviewrs74315370
scholarrs74315370
googlers74315370
pharmgkbrs74315370
gwascentralrs74315370
openSNPrs74315370
23andMers74315370
SNPshotrs74315370
SNPdbers74315370
MSV3drs74315370
GWAS Ctlgrs74315370
Max Magnitude6.2
OMIM185470
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315370(G;G) rs74315370(T;T)
Alt rs74315370(G;G) rs74315370(T;T)
Reference Rs74315370(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma
Variation info
Gene SDHB
CLNDBN Hereditary cancer-predisposing syndrome not provided Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma
Reversed 1
HGVS NC_000001.10:g.17371320G>A; NC_000001.10:g.17371320G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000132150.4, RCV000183224.2, RCV000228450.2, RCV000013626.26, RCV000216404.2,