rs121434592, AKT1

N. diseases: 54
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.
Proteus Syndrome
CUI: C0085261
Disease: Proteus Syndrome
1 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.730 1.000 4 2008 2019
Glandular papilloma
CUI: C3282896
Disease: Glandular papilloma
3 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Pulmonary Sclerosing Hemangioma
CUI: C1334455
Disease: Pulmonary Sclerosing Hemangioma
3 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Sialadenoma papilliferum
CUI: C3697936
Disease: Sialadenoma papilliferum
3 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2020 2020
Endometrial adenocarcinoma
CUI: C1153706
Disease: Endometrial adenocarcinoma
5 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Hidradenoma Papilliferum
CUI: C0334348
Disease: Hidradenoma Papilliferum
5 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Malformations of Cortical Development
5 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
Pancreatic Intraductal Papillary Mucinous Neoplasm
8 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2020 2020
Sinonasal undifferentiated carcinoma
8 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
9 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Urothelial Carcinoma
CUI: C2145472
Disease: Urothelial Carcinoma
10 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
Carcinoma, Transitional Cell
CUI: C0007138
Disease: Carcinoma, Transitional Cell
12 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
Precursor B-cell lymphoblastic leukemia
23 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
Solid Neoplasm
CUI: C0280100
Disease: Solid Neoplasm
24 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.030 1.000 3 2015 2018
Papilloma
CUI: C0030354
Disease: Papilloma
27 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
Recurrent tumor
CUI: C0521158
Disease: Recurrent tumor
33 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
estrogen receptor-negative breast cancer
40 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Meningioma
CUI: C0025286
Disease: Meningioma
43 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 0.500 2 2013 2020
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
Oestrogen receptor positive breast cancer
58 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2010
leukemia
CUI: C0023418
Disease: leukemia
144 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.050 1.000 5 2007 2010