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rs146650273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ACTT) 6.3 PTEN hamartoma tumor syndrome
(ACTT;ACTT) 0 common/normal
(TACT;TACT) 0 common in clinvar


Make rs146650273(-;-)
ReferenceGRCh38 38.1/142
Chromosome10
Position87961047
GenePTEN
is asnp
is mentioned by
dbSNPrs146650273
dbSNP (classic)rs146650273
ClinGenrs146650273
ebirs146650273
HLIrs146650273
Exacrs146650273
Gnomadrs146650273
Varsomers146650273
LitVarrs146650273
Maprs146650273
PheGenIrs146650273
Biobankrs146650273
1000 genomesrs146650273
hgdprs146650273
ensemblrs146650273
geneviewrs146650273
scholarrs146650273
googlers146650273
pharmgkbrs146650273
gwascentralrs146650273
openSNPrs146650273
23andMers146650273
SNPshotrs146650273
SNPdbers146650273
MSV3drs146650273
GWAS Ctlgrs146650273
Max Magnitude6.3
ClinVar
Risk rs146650273(-;-)
Alt rs146650273(-;-)
Reference Rs146650273(TACT;TACT)
Significance Pathogenic
Disease Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89720804_89720807delACTT
CLNSRC ClinVar
CLNACC RCV000144657.1, RCV000473522.1, RCV000491407.1,