rs121913279, PIK3CA

N. diseases: 101
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.
Apocrine metaplasia
CUI: C0334036
Disease: Apocrine metaplasia
1 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Lipomatosis
CUI: C0023801
Disease: Lipomatosis
1 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Macrodactyly of toe
CUI: C0158768
Disease: Macrodactyly of toe
1 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
MACRODACTYLY, SOMATIC
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
1 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Lipomatosis, Multiple Symmetrical
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
2 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Rosette-forming glioneuronal neoplasm
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
2 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Columnar Cell Change of the Breast
CUI: C1707444
Disease: Columnar Cell Change of the Breast
3 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Venous malformation
CUI: C0265950
Disease: Venous malformation
3 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Congenital macrodactylia
CUI: C0265552
Disease: Congenital macrodactylia
4 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 2013 2017
Hidradenoma Papilliferum
CUI: C0334348
Disease: Hidradenoma Papilliferum
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2016 2017
Mammary Tumorigenesis
CUI: C1512981
Disease: Mammary Tumorigenesis
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2013 2016
CLAPO Syndrome
CUI: C2751313
Disease: CLAPO Syndrome
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2018 2018
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2012 2012
Lymphatic Abnormalities
CUI: C0398368
Disease: Lymphatic Abnormalities
6 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Overgrowth Syndrome
CUI: C2986703
Disease: Overgrowth Syndrome
6 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
Anaplasia
CUI: C0002793
Disease: Anaplasia
7 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
7 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
7 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Salivary duct carcinoma
CUI: C1301194
Disease: Salivary duct carcinoma
9 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
9 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
11 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Ductal Carcinoma
CUI: C1176475
Disease: Ductal Carcinoma
11 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Pancreatic intraepithelial neoplasia
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
11 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
Carcinoma breast stage IV
CUI: C0278488
Disease: Carcinoma breast stage IV
14 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014