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rs121913292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 6.3 Cowden syndrome
(G;G) 0 common in clinvar


Make rs121913292(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87933148
GenePTEN
is asnp
is mentioned by
dbSNPrs121913292
dbSNP (classic)rs121913292
ClinGenrs121913292
ebirs121913292
HLIrs121913292
Exacrs121913292
Gnomadrs121913292
Varsomers121913292
LitVarrs121913292
Maprs121913292
PheGenIrs121913292
Biobankrs121913292
1000 genomesrs121913292
hgdprs121913292
ensemblrs121913292
geneviewrs121913292
scholarrs121913292
googlers121913292
pharmgkbrs121913292
gwascentralrs121913292
openSNPrs121913292
23andMers121913292
SNPshotrs121913292
SNPdbers121913292
MSV3drs121913292
GWAS Ctlgrs121913292
Max Magnitude6.3
ClinVar
Risk rs121913292(-;-)
Alt rs121913292(-;-)
Reference Rs121913292(G;G)
Significance Pathogenic
Disease Cowden syndrome 1
Variation info
Gene PTEN
CLNDBN Cowden syndrome 1
Reversed 0
HGVS NC_000010.10:g.89692905delG
CLNSRC
CLNACC RCV000172822.1,