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rs398123317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6.3 Hereditary cancer predisposing syndrome
(T;T) 0 common in clinvar
Make rs398123317(A;A)
Make rs398123317(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87925550
GenePTEN
is asnp
is mentioned by
dbSNPrs398123317
dbSNP (classic)rs398123317
ClinGenrs398123317
ebirs398123317
HLIrs398123317
Exacrs398123317
Gnomadrs398123317
Varsomers398123317
LitVarrs398123317
Maprs398123317
PheGenIrs398123317
Biobankrs398123317
1000 genomesrs398123317
hgdprs398123317
ensemblrs398123317
geneviewrs398123317
scholarrs398123317
googlers398123317
pharmgkbrs398123317
gwascentralrs398123317
openSNPrs398123317
23andMers398123317
SNPshotrs398123317
SNPdbers398123317
MSV3drs398123317
GWAS Ctlgrs398123317
Max Magnitude6.3
ClinVar
Risk rs398123317(A;A) rs398123317(C;C)
Alt rs398123317(A;A) rs398123317(C;C)
Reference Rs398123317(T;T)
Significance Pathogenic
Disease not specified not provided Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN not specified not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89685307T>A; NC_000010.10:g.89685307T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000078608.5, RCV000169864.2, RCV000491290.1,