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rs121909226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6.3 Cowden syndrome
(T;T) 0 common in clinvar


Make rs121909226(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position87925557
GenePTEN
is asnp
is mentioned by
dbSNPrs121909226
dbSNP (classic)rs121909226
ClinGenrs121909226
ebirs121909226
HLIrs121909226
Exacrs121909226
Gnomadrs121909226
Varsomers121909226
LitVarrs121909226
Maprs121909226
PheGenIrs121909226
Biobankrs121909226
1000 genomesrs121909226
hgdprs121909226
ensemblrs121909226
geneviewrs121909226
scholarrs121909226
googlers121909226
pharmgkbrs121909226
gwascentralrs121909226
openSNPrs121909226
23andMers121909226
SNPshotrs121909226
SNPdbers121909226
MSV3drs121909226
GWAS Ctlgrs121909226
Max Magnitude6.3
OMIM601728
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909226(C;C)
Alt rs121909226(C;C)
Reference Rs121909226(T;T)
Significance Pathogenic
Disease Cowden syndrome 1
Variation info
Gene PTEN
CLNDBN Cowden syndrome 1
Reversed 0
HGVS NC_000010.10:g.89685314T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008272.2,