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rs587782703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar
Make rs587782703(G;T)
Make rs587782703(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position17053947
GeneSDHB
is asnp
is mentioned by
dbSNPrs587782703
dbSNP (classic)rs587782703
ClinGenrs587782703
ebirs587782703
HLIrs587782703
Exacrs587782703
Gnomadrs587782703
Varsomers587782703
LitVarrs587782703
Maprs587782703
PheGenIrs587782703
Biobankrs587782703
1000 genomesrs587782703
hgdprs587782703
ensemblrs587782703
geneviewrs587782703
scholarrs587782703
googlers587782703
pharmgkbrs587782703
gwascentralrs587782703
openSNPrs587782703
23andMers587782703
SNPshotrs587782703
SNPdbers587782703
MSV3drs587782703
GWAS Ctlgrs587782703
Max Magnitude6.2
ClinVar
Risk rs587782703(T;T)
Alt rs587782703(T;T)
Reference Rs587782703(G;G)
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.17380442C>A; NC_000001.10:g.17380442C>T
CLNSRC HGMD
CLNACC RCV000132151.4, RCV000153923.4, RCV000232241.2, RCV000492576.1,