rs121913272, PIK3CA

N. diseases: 13
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 0.752 0.400 3 179210192 missense variant T/C;G snv 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 0.752 0.400 3 179210192 missense variant T/C;G snv 0.800 1.000 1 2012 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2005 2005
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2014 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2014 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 1 2016 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 0
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
9 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.752 0.400 3 179210192 missense variant T/C;G snv 0.010 1.000 1 2017 2017