rs121909218, PTEN

N. diseases: 25
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 0.672 0.360 10 87933145 missense variant G/A snv 0.820 1.000 25 1997 2015
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.672 0.360 10 87933145 missense variant G/A snv 0.020 1.000 2 2002 2004
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2011 2011
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2002 2002
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2004 2004
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2004 2004
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2002 2002
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2002 2002
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2002 2002
Malignant neoplasm of urinary bladder
316 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2004 2004
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2016 2016
Renal fibrosis
CUI: C0151650
Disease: Renal fibrosis
1 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2019 2019
Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Hamartomatous polyposis
CUI: C3272802
Disease: Hamartomatous polyposis
3 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Lipoma
CUI: C0023798
Disease: Lipoma
9 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
43 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Penile freckling
CUI: C4531112
Disease: Penile freckling
11 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
17 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0