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rs121913293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Hereditary cancer predisposing syndrome
Make rs121913293(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87952142
GenePTEN
is asnp
is mentioned by
dbSNPrs121913293
dbSNP (old)rs121913293
ClinGenrs121913293
ebirs121913293
HLIrs121913293
Exacrs121913293
Varsomers121913293
Maprs121913293
PheGenIrs121913293
Biobankrs121913293
1000 genomesrs121913293
hgdprs121913293
ensemblrs121913293
gopubmedrs121913293
geneviewrs121913293
scholarrs121913293
googlers121913293
pharmgkbrs121913293
gwascentralrs121913293
openSNPrs121913293
23andMers121913293
23andMe allrs121913293
SNP Nexus

SNPshotrs121913293
SNPdbers121913293
MSV3drs121913293
GWAS Ctlgrs121913293
Max Magnitude6.3
ClinVar
Risk rs121913293(A;A) rs121913293(T;T)
Alt rs121913293(A;A) rs121913293(T;T)
Reference Rs121913293(C;C)
Significance Pathogenic
Disease PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of brain
Variation info
Gene PTEN
CLNDBN PTEN hamartoma tumor syndrome not provided Hereditary cancer-predisposing syndrome Neoplasm of brain
Reversed 0
HGVS NC_000010.10:g.89711899C>A; NC_000010.10:g.89711899C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000460834.1, RCV000169890.2, RCV000218276.1, RCV000445192.1, RCV000490574.1,