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rs786204864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.3 Bannayan-Riley-Ruvalcaba syndrome
Make rs786204864(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position87952136
GenePTEN
is asnp
is mentioned by
dbSNPrs786204864
dbSNP (classic)rs786204864
ClinGenrs786204864
ebirs786204864
HLIrs786204864
Exacrs786204864
Gnomadrs786204864
Varsomers786204864
LitVarrs786204864
Maprs786204864
PheGenIrs786204864
Biobankrs786204864
1000 genomesrs786204864
hgdprs786204864
ensemblrs786204864
geneviewrs786204864
scholarrs786204864
googlers786204864
pharmgkbrs786204864
gwascentralrs786204864
openSNPrs786204864
23andMers786204864
SNPshotrs786204864
SNPdbers786204864
MSV3drs786204864
GWAS Ctlgrs786204864
Max Magnitude6.3
ClinVar
Risk rs786204864(T;T)
Alt rs786204864(T;T)
Reference Rs786204864(C;C)
Significance Pathogenic
Disease not provided PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN not provided PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89711893C>T
CLNSRC
CLNACC RCV000169804.2, RCV000233297.1, RCV000330369.1, RCV000491520.1,