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rs121909222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.3 Cowden syndrome
Make rs121909222(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position87933127
GenePTEN
is asnp
is mentioned by
dbSNPrs121909222
dbSNP (classic)rs121909222
ClinGenrs121909222
ebirs121909222
HLIrs121909222
Exacrs121909222
Gnomadrs121909222
Varsomers121909222
LitVarrs121909222
Maprs121909222
PheGenIrs121909222
Biobankrs121909222
1000 genomesrs121909222
hgdprs121909222
ensemblrs121909222
geneviewrs121909222
scholarrs121909222
googlers121909222
pharmgkbrs121909222
gwascentralrs121909222
openSNPrs121909222
23andMers121909222
SNPshotrs121909222
SNPdbers121909222
MSV3drs121909222
GWAS Ctlgrs121909222
Max Magnitude6.3
OMIM601728
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909222(G;G)
Alt rs121909222(G;G)
Reference Rs121909222(A;A)
Significance Pathogenic
Disease Cowden syndrome 1
Variation info
Gene PTEN
CLNDBN Cowden syndrome 1
Reversed 0
HGVS NC_000010.10:g.89692884A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008260.3,