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rs121908983

From SNPedia

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


Make rs121908983(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position112088974
GeneSDHD
is asnp
is mentioned by
dbSNPrs121908983
dbSNP (classic)rs121908983
ClinGenrs121908983
ebirs121908983
HLIrs121908983
Exacrs121908983
Gnomadrs121908983
Varsomers121908983
LitVarrs121908983
Maprs121908983
PheGenIrs121908983
Biobankrs121908983
1000 genomesrs121908983
hgdprs121908983
ensemblrs121908983
geneviewrs121908983
scholarrs121908983
googlers121908983
pharmgkbrs121908983
gwascentralrs121908983
openSNPrs121908983
23andMers121908983
SNPshotrs121908983
SNPdbers121908983
MSV3drs121908983
GWAS Ctlgrs121908983
Max Magnitude6.2
OMIM602690
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908983(-;-)
Alt rs121908983(-;-)
Reference Rs121908983(TAT;TAT)
Significance Pathogenic
Disease Paragangliomas 1
Variation info
Gene SDHD
CLNDBN Paragangliomas 1
Reversed 0
HGVS NC_000011.9:g.111959698_111959700delTAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007314.2,