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rs786202100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CCTCA) 6.2 Hereditary PGL/PCC Syndrome
(CCTCA;CCTCA) 0 common in clinvar
(I;I) 0 common genotype


Make rs786202100(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position17044791
GeneSDHB
is asnp
is mentioned by
dbSNPrs786202100
dbSNP (classic)rs786202100
ClinGenrs786202100
ebirs786202100
HLIrs786202100
Exacrs786202100
Gnomadrs786202100
Varsomers786202100
LitVarrs786202100
Maprs786202100
PheGenIrs786202100
Biobankrs786202100
1000 genomesrs786202100
hgdprs786202100
ensemblrs786202100
geneviewrs786202100
scholarrs786202100
googlers786202100
pharmgkbrs786202100
gwascentralrs786202100
openSNPrs786202100
23andMers786202100
SNPshotrs786202100
SNPdbers786202100
MSV3drs786202100
GWAS Ctlgrs786202100
Max Magnitude6.2
ClinVar
Risk rs786202100(-;-)
Alt rs786202100(-;-)
Reference Rs786202100(CCTCA;CCTCA)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma
Variation info
Gene SDHB
CLNDBN Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma
Reversed 1
HGVS NC_000001.10:g.17371286_17371290delTGAGG
CLNSRC
CLNACC RCV000164746.3, RCV000467539.1,