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rs121909232

From SNPedia

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


Make rs121909232(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position87952258
GenePTEN
is asnp
is mentioned by
dbSNPrs121909232
dbSNP (classic)rs121909232
ClinGenrs121909232
ebirs121909232
HLIrs121909232
Exacrs121909232
Gnomadrs121909232
Varsomers121909232
LitVarrs121909232
Maprs121909232
PheGenIrs121909232
Biobankrs121909232
1000 genomesrs121909232
hgdprs121909232
ensemblrs121909232
geneviewrs121909232
scholarrs121909232
googlers121909232
pharmgkbrs121909232
gwascentralrs121909232
openSNPrs121909232
23andMers121909232
SNPshotrs121909232
SNPdbers121909232
MSV3drs121909232
GWAS Ctlgrs121909232
Max Magnitude6.3
OMIM601728
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121909232(A;A) rs121909232(G;G)
Alt rs121909232(A;A) rs121909232(G;G)
Reference Rs121909232(C;C)
Significance Pathogenic
Disease Malignant melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PTEN
CLNDBN Malignant melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000010.10:g.89712015C>A; NC_000010.10:g.89712015C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008284.4, RCV000409569.1, RCV000490942.1, RCV000399957.1,