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rs121909225

From SNPedia

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


Make rs121909225(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87894049
GenePTEN
is asnp
is mentioned by
dbSNPrs121909225
dbSNP (classic)rs121909225
ClinGenrs121909225
ebirs121909225
HLIrs121909225
Exacrs121909225
Gnomadrs121909225
Varsomers121909225
LitVarrs121909225
Maprs121909225
PheGenIrs121909225
Biobankrs121909225
1000 genomesrs121909225
hgdprs121909225
ensemblrs121909225
geneviewrs121909225
scholarrs121909225
googlers121909225
pharmgkbrs121909225
gwascentralrs121909225
openSNPrs121909225
23andMers121909225
SNPshotrs121909225
SNPdbers121909225
MSV3drs121909225
GWAS Ctlgrs121909225
Max Magnitude6.3
OMIM601728
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909225(C;C) rs121909225(G;G)
Alt rs121909225(C;C) rs121909225(G;G)
Reference Rs121909225(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Cowden syndrome 1
Variation info
Gene PTEN
CLNDBN Hereditary cancer-predisposing syndrome Cowden syndrome 1
Reversed 0
HGVS NC_000010.10:g.89653806T>C; NC_000010.10:g.89653806T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000491217.1, RCV000008271.3,