rs786204929, PTEN

N. diseases: 12
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.752 0.200 10 87933144 stop gained G/A;T snv 0.700 1.000 14 2001 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.752 0.200 10 87933144 stop gained G/A;T snv 0.700 1.000 4 1997 2015
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.752 0.200 10 87933144 stop gained G/A;T snv 0.700 0
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2011 2011
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2004 2004
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2007 2007
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2004 2004
Glioma
CUI: C0017638
Disease: Glioma
353 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 1999 1999
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2012 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2007 2007
Malignant neoplasm of urinary bladder
316 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2004 2004
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
15 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2012 2012