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rs562015640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.3 Cowden syndrome (PTEN hamartoma tumor syndrome)
(A;T) 6.3 Cowden syndrome (PTEN hamartoma tumor syndrome)
Make rs562015640(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position87960957
GenePTEN
is asnp
is mentioned by
dbSNPrs562015640
dbSNP (classic)rs562015640
ClinGenrs562015640
ebirs562015640
HLIrs562015640
Exacrs562015640
Gnomadrs562015640
Varsomers562015640
LitVarrs562015640
Maprs562015640
PheGenIrs562015640
Biobankrs562015640
1000 genomesrs562015640
hgdprs562015640
ensemblrs562015640
geneviewrs562015640
scholarrs562015640
googlers562015640
pharmgkbrs562015640
gwascentralrs562015640
openSNPrs562015640
23andMers562015640
SNPshotrs562015640
SNPdbers562015640
MSV3drs562015640
GWAS Ctlgrs562015640
Max Magnitude6.3
ClinVar
Risk rs562015640(G;G) rs562015640(T;T)
Alt rs562015640(G;G) rs562015640(T;T)
Reference Rs562015640(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89720714A>G; NC_000010.10:g.89720714A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000132384.4, RCV000491183.1,