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rs397516835

From SNPedia

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


Make rs397516835(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position17024040
GeneSDHB
is asnp
is mentioned by
dbSNPrs397516835
dbSNP (classic)rs397516835
ClinGenrs397516835
ebirs397516835
HLIrs397516835
Exacrs397516835
Gnomadrs397516835
Varsomers397516835
LitVarrs397516835
Maprs397516835
PheGenIrs397516835
Biobankrs397516835
1000 genomesrs397516835
hgdprs397516835
ensemblrs397516835
geneviewrs397516835
scholarrs397516835
googlers397516835
pharmgkbrs397516835
gwascentralrs397516835
openSNPrs397516835
23andMers397516835
SNPshotrs397516835
SNPdbers397516835
MSV3drs397516835
GWAS Ctlgrs397516835
Max Magnitude6.2
ClinVar
Risk rs397516835(A;A) rs397516835(C;C)
Alt rs397516835(A;A) rs397516835(C;C)
Reference Rs397516835(G;G)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome
Variation info
Gene SDHB
CLNDBN Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.17350535C>G; NC_000001.10:g.17350535C>T
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000037722.2, RCV000130852.3,