rs121909224, PTEN

N. diseases: 41
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 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.710 1.000 8 1997 2013
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 14 1997 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 8 1997 2014
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 4 1997 2013
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 4 1997 2013
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 4 1997 2013
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 4 1997 2013
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 4 1997 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 3 2001 2010
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 2 2001 2014
Malignant neoplasm of floor of mouth
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
16 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 2 2011 2014
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0