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rs772551056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.2 Hereditary PGL/PCC Syndrome
(C;C) 0 common in clinvar
Make rs772551056(C;T)
Make rs772551056(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position17044824
GeneSDHB
is asnp
is mentioned by
dbSNPrs772551056
dbSNP (classic)rs772551056
ClinGenrs772551056
ebirs772551056
HLIrs772551056
Exacrs772551056
Gnomadrs772551056
Varsomers772551056
LitVarrs772551056
Maprs772551056
PheGenIrs772551056
Biobankrs772551056
1000 genomesrs772551056
hgdprs772551056
ensemblrs772551056
geneviewrs772551056
scholarrs772551056
googlers772551056
pharmgkbrs772551056
gwascentralrs772551056
openSNPrs772551056
23andMers772551056
SNPshotrs772551056
SNPdbers772551056
MSV3drs772551056
GWAS Ctlgrs772551056
Max Magnitude6.2
ClinVar
Risk rs772551056(A;A) rs772551056(T;T)
Alt rs772551056(A;A) rs772551056(T;T)
Reference Rs772551056(C;C)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided
Variation info
Gene SDHB
CLNDBN Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000001.10:g.17371319C>A; NC_000001.10:g.17371319C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000473045.1, RCV000162578.3, RCV000183217.3, RCV000232432.2,