rs121909229, PTEN

N. diseases: 23
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.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
98 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.800 1.000 0 1997 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.710 1.000 1 2016 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 21 1998 2017
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 18 1998 2015
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 3 2001 2010
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
153 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2014 2014
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
66 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
46 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.683 0.400 10 87933148 missense variant G/A;C;T snv 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
179 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
69 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
58 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0