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rs786203506

From SNPedia

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


Make rs786203506(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position17028649
GeneSDHB
is asnp
is mentioned by
dbSNPrs786203506
dbSNP (classic)rs786203506
ClinGenrs786203506
ebirs786203506
HLIrs786203506
Exacrs786203506
Gnomadrs786203506
Varsomers786203506
LitVarrs786203506
Maprs786203506
PheGenIrs786203506
Biobankrs786203506
1000 genomesrs786203506
hgdprs786203506
ensemblrs786203506
geneviewrs786203506
scholarrs786203506
googlers786203506
pharmgkbrs786203506
gwascentralrs786203506
openSNPrs786203506
23andMers786203506
SNPshotrs786203506
SNPdbers786203506
MSV3drs786203506
GWAS Ctlgrs786203506
Max Magnitude6.2
ClinVar
Risk rs786203506(A;A) rs786203506(G;G)
Alt rs786203506(A;A) rs786203506(G;G)
Reference Rs786203506(C;C)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome
Variation info
Gene SDHB
CLNDBN Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.17355144G>C; NC_000001.10:g.17355144G>T
CLNSRC
CLNACC RCV000456990.1, RCV000166840.2,