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rs121909230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6.3 Lhermitte-Duclos disease
(T;T) 0 common in clinvar


Make rs121909230(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933094
GenePTEN
is asnp
is mentioned by
dbSNPrs121909230
dbSNP (classic)rs121909230
ClinGenrs121909230
ebirs121909230
HLIrs121909230
Exacrs121909230
Gnomadrs121909230
Varsomers121909230
LitVarrs121909230
Maprs121909230
PheGenIrs121909230
Biobankrs121909230
1000 genomesrs121909230
hgdprs121909230
ensemblrs121909230
geneviewrs121909230
scholarrs121909230
googlers121909230
pharmgkbrs121909230
gwascentralrs121909230
openSNPrs121909230
23andMers121909230
SNPshotrs121909230
SNPdbers121909230
MSV3drs121909230
GWAS Ctlgrs121909230
Max Magnitude6.3
OMIM601728
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121909230(C;C)
Alt rs121909230(C;C)
Reference Rs121909230(T;T)
Significance Pathogenic
Disease Lhermitte-Duclos disease not provided
Variation info
Gene PTEN
CLNDBN Lhermitte-Duclos disease not provided
Reversed 0
HGVS NC_000010.10:g.89692851T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008278.3, RCV000304615.1,