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rs121909231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909231(C;T)
Make rs121909231(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87961095
GenePTEN
is asnp
is mentioned by
dbSNPrs121909231
ebirs121909231
HLIrs121909231
Exacrs121909231
Varsomers121909231
Maprs121909231
PheGenIrs121909231
hapmaprs121909231
1000 genomesrs121909231
hgdprs121909231
ensemblrs121909231
gopubmedrs121909231
geneviewrs121909231
scholarrs121909231
googlers121909231
pharmgkbrs121909231
gwascentralrs121909231
openSNPrs121909231
23andMers121909231
23andMe allrs121909231
SNP Nexus

SNPshotrs121909231
SNPdbers121909231
MSV3drs121909231
GWAS Ctlgrs121909231
Max Magnitude0
OMIM601728
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121909231(T;T)
Alt rs121909231(T;T)
Reference rs121909231(C;C)
Significance Pathogenic
Disease Bannayan-Riley-Ruvalcaba syndrome Proteus-like syndrome Cowden syndrome 1 not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome
Variation info
Gene PTEN
CLNDBN Bannayan-Riley-Ruvalcaba syndrome Proteus-like syndrome Cowden syndrome 1 not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome
Reversed 0
HGVS NC_000010.10:g.89720852C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008279.3, RCV000008281.3, RCV000033179.3, RCV000078601.4, RCV000162409.3, RCV000197423.2,