rs121913279, PIK3CA

N. diseases: 68
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 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Columnar Cell Change of the Breast
CUI: C1707444
Disease: Columnar Cell Change of the Breast
1 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
1 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Macrodactyly of the foot
CUI: C2931596
Disease: Macrodactyly of the foot
1 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 1 2015 2015
Rosette-forming glioneuronal tumor of the fourth ventricle
2 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 2 2016 2016
Venous malformation
CUI: C0265950
Disease: Venous malformation
2 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
3 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.800 7 1993 2012
Anaplasia
CUI: C0002793
Disease: Anaplasia
4 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
4 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Lymphatic Abnormalities
CUI: C0398368
Disease: Lymphatic Abnormalities
5 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Mammary Tumorigenesis
CUI: C1512981
Disease: Mammary Tumorigenesis
5 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
7 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 6 2004 2012
Salivary duct carcinoma
CUI: C1301194
Disease: Salivary duct carcinoma
8 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
10 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Pancreatic intraepithelial neoplasia
10 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
12 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.800 6 2004 2012
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
17 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
17 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
23 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 6 2004 2012
Lung Neoplasms
CUI: C0024121
Disease: Lung Neoplasms
23 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Colorectal cancer metastatic
CUI: C0948380
Disease: Colorectal cancer metastatic
24 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
39 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 1 2016 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
44 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 1 2016 2016
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
61 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 1 2012 2012
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
66 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 1 2016 2016