rs1057519724, PTEN

N. diseases: 3
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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 2 2016 2018
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 10 2004 2012
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 4 1999 2010