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rs727504114

From SNPedia

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


Make rs727504114(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87952261
GenePTEN
is asnp
is mentioned by
dbSNPrs727504114
dbSNP (classic)rs727504114
ClinGenrs727504114
ebirs727504114
HLIrs727504114
Exacrs727504114
Gnomadrs727504114
Varsomers727504114
LitVarrs727504114
Maprs727504114
PheGenIrs727504114
Biobankrs727504114
1000 genomesrs727504114
hgdprs727504114
ensemblrs727504114
geneviewrs727504114
scholarrs727504114
googlers727504114
pharmgkbrs727504114
gwascentralrs727504114
openSNPrs727504114
23andMers727504114
SNPshotrs727504114
SNPdbers727504114
MSV3drs727504114
GWAS Ctlgrs727504114
Max Magnitude6.3
ClinVar
Risk rs727504114(G;G)
Alt rs727504114(G;G)
Reference Rs727504114(T;T)
Significance Pathogenic
Disease not provided Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89712018T>G
CLNSRC HGMD
CLNACC RCV000153791.3, RCV000491022.1,