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rs121909228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.3 Bannayan-Riley-Ruvalcaba syndrome
Make rs121909228(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position87957984
GenePTEN
is asnp
is mentioned by
dbSNPrs121909228
dbSNP (classic)rs121909228
ClinGenrs121909228
ebirs121909228
HLIrs121909228
Exacrs121909228
Gnomadrs121909228
Varsomers121909228
LitVarrs121909228
Maprs121909228
PheGenIrs121909228
Biobankrs121909228
1000 genomesrs121909228
hgdprs121909228
ensemblrs121909228
geneviewrs121909228
scholarrs121909228
googlers121909228
pharmgkbrs121909228
gwascentralrs121909228
openSNPrs121909228
23andMers121909228
SNPshotrs121909228
SNPdbers121909228
MSV3drs121909228
GWAS Ctlgrs121909228
Max Magnitude6.3
OMIM601728
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909228(T;T)
Alt rs121909228(T;T)
Reference Rs121909228(G;G)
Significance Pathogenic
Disease Bannayan-Riley-Ruvalcaba syndrome
Variation info
Gene PTEN
CLNDBN Bannayan-Riley-Ruvalcaba syndrome
Reversed 0
HGVS NC_000010.10:g.89717741G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008274.2,