rs121913273, PIK3CA

N. diseases: 44
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.
CLAPO Syndrome
CUI: C2751313
Disease: CLAPO Syndrome
5 0.605 0.440 3 179218294 missense variant G/A;C snv 0.800 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
5 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0
Congenital macrodactylia
CUI: C0265552
Disease: Congenital macrodactylia
4 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 14 2004 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2014
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 2 2005 2012
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.605 0.440 3 179218294 missense variant G/A;C snv 0.710 1.000 1 2007 2007
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.605 0.440 3 179218294 missense variant G/A;C snv 0.710 1.000 2 2008 2016
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2008 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.440 3 179218294 missense variant G/A;C snv 0.030 1.000 3 2009 2019
Mixed Salivary Gland Tumor
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
3 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Salivary duct carcinoma
CUI: C1301194
Disease: Salivary duct carcinoma
9 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.605 0.440 3 179218294 missense variant G/A;C snv 0.030 1.000 3 2014 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.605 0.440 3 179218294 missense variant G/A;C snv 0.730 1.000 3 2014 2019
Undifferentiated (Embryonal) Sarcoma
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
4 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
11 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016