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rs121909221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6.3 Bannayan-Riley-Ruvalcaba syndrome
(T;T) 0 common in clinvar


Make rs121909221(A;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position87952135
GenePTEN
is asnp
is mentioned by
dbSNPrs121909221
dbSNP (classic)rs121909221
ClinGenrs121909221
ebirs121909221
HLIrs121909221
Exacrs121909221
Gnomadrs121909221
Varsomers121909221
LitVarrs121909221
Maprs121909221
PheGenIrs121909221
Biobankrs121909221
1000 genomesrs121909221
hgdprs121909221
ensemblrs121909221
geneviewrs121909221
scholarrs121909221
googlers121909221
pharmgkbrs121909221
gwascentralrs121909221
openSNPrs121909221
23andMers121909221
SNPshotrs121909221
SNPdbers121909221
MSV3drs121909221
GWAS Ctlgrs121909221
Max Magnitude6.3
OMIM601728
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909221(A;A)
Alt rs121909221(A;A)
Reference Rs121909221(T;T)
Significance Pathogenic
Disease Bannayan-Riley-Ruvalcaba syndrome
Variation info
Gene PTEN
CLNDBN Bannayan-Riley-Ruvalcaba syndrome
Reversed 0
HGVS NC_000010.10:g.89711892T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008259.4,