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rs142441643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.2 Hereditary PGL/PCC Syndrome
Make rs142441643(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position223509
GeneSDHA
is asnp
is mentioned by
dbSNPrs142441643
dbSNP (classic)rs142441643
ClinGenrs142441643
ebirs142441643
HLIrs142441643
Exacrs142441643
Gnomadrs142441643
Varsomers142441643
LitVarrs142441643
Maprs142441643
PheGenIrs142441643
Biobankrs142441643
1000 genomesrs142441643
hgdprs142441643
ensemblrs142441643
geneviewrs142441643
scholarrs142441643
googlers142441643
pharmgkbrs142441643
gwascentralrs142441643
openSNPrs142441643
23andMers142441643
SNPshotrs142441643
SNPdbers142441643
MSV3drs142441643
GWAS Ctlgrs142441643
Max Magnitude6.2
ClinVar
Risk rs142441643(T;T)
Alt rs142441643(T;T)
Reference Rs142441643(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Paragangliomas 5 Carney triad Mitochondrial complex II deficiency not provided
Variation info
Gene SDHA
CLNDBN Hereditary cancer-predisposing syndrome Paragangliomas 5 Carney triad Mitochondrial complex II deficiency not provided
Reversed 0
HGVS NC_000005.9:g.223624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000131808.3, RCV000148026.4, RCV000170328.1, RCV000231830.2, RCV000413945.1,