rs587782343, PTEN

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.851 0.200 10 87933073 missense variant G/A snv 0.700 1.000 20 1997 2008
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.851 0.200 10 87933073 missense variant G/A snv 0.700 1.000 1 2016 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.851 0.200 10 87933073 missense variant G/A snv 0.080 1.000 8 2004 2019
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.200 10 87933073 missense variant G/A snv 0.020 1.000 2 2011 2017