rs562015640, PTEN

N. diseases: 16
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 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.710 1.000 21 1997 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.700 1.000 7 1998 2008
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.020 1.000 2 2011 2017
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2018 2018
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2017 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1 2018 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2018 2018
leukemia
CUI: C0023418
Disease: leukemia
144 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2013 2013
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
20 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1 2018 2018