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rs587776649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar


Make rs587776649(-;-)
ReferenceGRCh38 38.1/142
Chromosome11
Position112087861
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs587776649
dbSNP (classic)rs587776649
ClinGenrs587776649
ebirs587776649
HLIrs587776649
Exacrs587776649
Gnomadrs587776649
Varsomers587776649
LitVarrs587776649
Maprs587776649
PheGenIrs587776649
Biobankrs587776649
1000 genomesrs587776649
hgdprs587776649
ensemblrs587776649
geneviewrs587776649
scholarrs587776649
googlers587776649
pharmgkbrs587776649
gwascentralrs587776649
openSNPrs587776649
23andMers587776649
SNPshotrs587776649
SNPdbers587776649
MSV3drs587776649
GWAS Ctlgrs587776649
Max Magnitude6.2
ClinVar
Risk rs587776649(-;-)
Alt rs587776649(-;-)
Reference Rs587776649(G;G)
Significance Pathogenic
Disease Paraganglioma and gastric stromal sarcoma not provided Hereditary cancer-predisposing syndrome
Variation info
Gene TIMM8B SDHD
CLNDBN Paraganglioma and gastric stromal sarcoma not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.111958585delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007326.2, RCV000482313.1, RCV000492772.1,