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rs121909241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.3 Cowden syndrome (PTEN hamartoma tumor syndrome)
(G;G) 0 common in clinvar
(G;T) 6.3 PTEN hamartoma tumor syndrome
Make rs121909241(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933154
GenePTEN
is asnp
is mentioned by
dbSNPrs121909241
dbSNP (classic)rs121909241
ClinGenrs121909241
ebirs121909241
HLIrs121909241
Exacrs121909241
Gnomadrs121909241
Varsomers121909241
LitVarrs121909241
Maprs121909241
PheGenIrs121909241
Biobankrs121909241
1000 genomesrs121909241
hgdprs121909241
ensemblrs121909241
geneviewrs121909241
scholarrs121909241
googlers121909241
pharmgkbrs121909241
gwascentralrs121909241
openSNPrs121909241
23andMers121909241
SNPshotrs121909241
SNPdbers121909241
MSV3drs121909241
GWAS Ctlgrs121909241
Max Magnitude6.3
OMIM601728
Desc
Variant0041
Relatedalso
ClinVar
Risk rs121909241(A;A) rs121909241(T;T)
Alt rs121909241(A;A) rs121909241(T;T)
Reference Rs121909241(G;G)
Significance Pathogenic
Disease not provided not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN not provided not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89692911G>A; NC_000010.10:g.89692911G>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000078616.6, RCV000259056.1, RCV000008302.2, RCV000221956.1, RCV000489810.1,