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rs397516836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Hereditary PGL/PCC Syndrome
Make rs397516836(A;A)
Make rs397516836(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position17024015
GeneSDHB
is asnp
is mentioned by
dbSNPrs397516836
dbSNP (classic)rs397516836
ClinGenrs397516836
ebirs397516836
HLIrs397516836
Exacrs397516836
Gnomadrs397516836
Varsomers397516836
LitVarrs397516836
Maprs397516836
PheGenIrs397516836
Biobankrs397516836
1000 genomesrs397516836
hgdprs397516836
ensemblrs397516836
geneviewrs397516836
scholarrs397516836
googlers397516836
pharmgkbrs397516836
gwascentralrs397516836
openSNPrs397516836
23andMers397516836
SNPshotrs397516836
SNPdbers397516836
MSV3drs397516836
GWAS Ctlgrs397516836
Max Magnitude6.2
ClinVar
Risk rs397516836(A;A) rs397516836(T;T)
Alt rs397516836(A;A) rs397516836(T;T)
Reference Rs397516836(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene SDHB
CLNDBN Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 1
HGVS NC_000001.10:g.17350510C>A; NC_000001.10:g.17350510C>T
CLNSRC ClinVar
CLNACC RCV000162460.3, RCV000462889.1, RCV000037723.2, RCV000492138.1,