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rs74315368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar


Make rs74315368(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position17022648
GeneSDHB
is asnp
is mentioned by
dbSNPrs74315368
dbSNP (classic)rs74315368
ClinGenrs74315368
ebirs74315368
HLIrs74315368
Exacrs74315368
Gnomadrs74315368
Varsomers74315368
LitVarrs74315368
Maprs74315368
PheGenIrs74315368
Biobankrs74315368
1000 genomesrs74315368
hgdprs74315368
ensemblrs74315368
geneviewrs74315368
scholarrs74315368
googlers74315368
pharmgkbrs74315368
gwascentralrs74315368
openSNPrs74315368
23andMers74315368
SNPshotrs74315368
SNPdbers74315368
MSV3drs74315368
GWAS Ctlgrs74315368
Max Magnitude6.2
OMIM185470
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315368(A;A)
Alt rs74315368(A;A)
Reference Rs74315368(G;G)
Significance Pathogenic
Disease Paragangliomas 4 Pheochromocytoma Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome not provided
Variation info
Gene SDHB
CLNDBN Paragangliomas 4 Pheochromocytoma Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000001.10:g.17349143C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013619.25, RCV000013620.25, RCV000022778.25, RCV000129095.4, RCV000183216.2,