Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122805

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 rs398122805(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position17028599
GeneSDHB
is asnp
is mentioned by
dbSNPrs398122805
dbSNP (classic)rs398122805
ClinGenrs398122805
ebirs398122805
HLIrs398122805
Exacrs398122805
Gnomadrs398122805
Varsomers398122805
LitVarrs398122805
Maprs398122805
PheGenIrs398122805
Biobankrs398122805
1000 genomesrs398122805
hgdprs398122805
ensemblrs398122805
geneviewrs398122805
scholarrs398122805
googlers398122805
pharmgkbrs398122805
gwascentralrs398122805
openSNPrs398122805
23andMers398122805
SNPshotrs398122805
SNPdbers398122805
MSV3drs398122805
GWAS Ctlgrs398122805
Max Magnitude6.2

aka c.423+1G>A

ClinVar
Risk rs398122805(A;A)
Alt rs398122805(A;A)
Reference Rs398122805(G;G)
Significance Pathogenic
Disease Paragangliomas 4 Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Pheochromocytoma not provided
Variation info
Gene SDHB
CLNDBN Paragangliomas 4 Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Pheochromocytoma not provided
Reversed 1
HGVS NC_000001.10:g.17355094C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022779.25, RCV000163600.3, RCV000226963.2, RCV000481826.1,