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rs587782187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6.3 PTEN hamartoma tumor syndrome
(G;T) 6.3 Cowden syndrome (PTEN hamartoma tumor syndrome)
(T;T) 0 common in clinvar


Make rs587782187(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position87864517
GeneKLLN, PTEN
is asnp
is mentioned by
dbSNPrs587782187
dbSNP (classic)rs587782187
ClinGenrs587782187
ebirs587782187
HLIrs587782187
Exacrs587782187
Gnomadrs587782187
Varsomers587782187
LitVarrs587782187
Maprs587782187
PheGenIrs587782187
Biobankrs587782187
1000 genomesrs587782187
hgdprs587782187
ensemblrs587782187
geneviewrs587782187
scholarrs587782187
googlers587782187
pharmgkbrs587782187
gwascentralrs587782187
openSNPrs587782187
23andMers587782187
SNPshotrs587782187
SNPdbers587782187
MSV3drs587782187
GWAS Ctlgrs587782187
Max Magnitude6.3
ClinVar
Risk rs587782187(A;A) rs587782187(C;C)
Alt rs587782187(A;A) rs587782187(C;C)
Reference Rs587782187(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided PTEN hamartoma tumor syndrome not specified
Variation info
Gene PTEN LOC101929706 KLLN
CLNDBN Hereditary cancer-predisposing syndrome not provided PTEN hamartoma tumor syndrome not specified
Reversed 0
HGVS NC_000010.10:g.89624274T>A; NC_000010.10:g.89624274T>C
CLNSRC
CLNACC RCV000130817.4, RCV000212878.1, RCV000477134.1, RCV000196280.1, RCV000429131.1,