rs121913273, PIK3CA

N. diseases: 21
Source: CLINVAR ×
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.605 0.440 3 179218294 missense variant G/A;C snv 0.710 1.000 1 2008 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 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
314 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
82 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
436 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 2 2005 2012
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 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
96 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
118 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
102 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
188 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Macrodactylia of fingers
CUI: C0158763
Disease: Macrodactylia of fingers
1 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Papillary renal cell carcinoma, sporadic
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
30 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
46 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
69 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 1 2016 2016
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