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rs587782243

From SNPedia

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


Make rs587782243(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position17033060
GeneSDHB
is asnp
is mentioned by
dbSNPrs587782243
dbSNP (classic)rs587782243
ClinGenrs587782243
ebirs587782243
HLIrs587782243
Exacrs587782243
Gnomadrs587782243
Varsomers587782243
LitVarrs587782243
Maprs587782243
PheGenIrs587782243
Biobankrs587782243
1000 genomesrs587782243
hgdprs587782243
ensemblrs587782243
geneviewrs587782243
scholarrs587782243
googlers587782243
pharmgkbrs587782243
gwascentralrs587782243
openSNPrs587782243
23andMers587782243
SNPshotrs587782243
SNPdbers587782243
MSV3drs587782243
GWAS Ctlgrs587782243
Max Magnitude6.2
ClinVar
Risk rs587782243(A;A)
Alt rs587782243(A;A)
Reference Rs587782243(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma not provided
Variation info
Gene SDHB
CLNDBN Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma not provided
Reversed 1
HGVS NC_000001.10:g.17359555C>T
CLNSRC
CLNACC RCV000130946.4, RCV000459169.1, RCV000489952.1,