rs121434592, AKT1

N. diseases: 54
Source: BEFREE ×
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.
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
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
27 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
24 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
769 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
Malformations of Cortical Development
CUI: C1955869
Disease: Malformations of Cortical Development
2 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
238 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
861 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
289 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
78 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
melanoma
CUI: C0025202
Disease: melanoma
352 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
601 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Oestrogen receptor positive breast cancer
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
46 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
236 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
Pancreatic Intraductal Papillary Mucinous Neoplasm
CUI: C4511687
Disease: 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
Papilloma
CUI: C0030354
Disease: Papilloma
25 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
1 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
Precursor B-cell lymphoblastic leukemia
CUI: C1292769
Disease: 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
858 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
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
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
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
39 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
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