rs121913289, PTEN

N. diseases: 4
Source: CLINVAR ×
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.
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 10 2004 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 5 2007 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 4 1999 2010
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 0