rs104886003, PIK3CA

N. diseases: 71
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.
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
5 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
Lymphatic Abnormalities
CUI: C0398368
Disease: Lymphatic Abnormalities
6 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
7 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
Salivary duct carcinoma
CUI: C1301194
Disease: Salivary duct carcinoma
9 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
Head and Neck Neoplasms
CUI: C0018671
Disease: Head and Neck Neoplasms
11 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2013 2014
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
11 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
Carcinoma, Endometrioid
CUI: C0206687
Disease: Carcinoma, Endometrioid
12 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2020 2020
Megalencephaly cutis marmorata telangiectatica congenita
18 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2012 2016
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 1 2007 2007
Papilloma
CUI: C0030354
Disease: Papilloma
27 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2018 2018
Papillary renal cell carcinoma, sporadic
30 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
32 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2020 2020
Secondary malignant neoplasm of liver
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
Nasopharyngeal Neoplasms
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
36 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
Congenital contractural arachnodactyly
48 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
56 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Stage IIA Gallbladder Cancer AJCC v8
56 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Stage IIB Gallbladder Cancer AJCC v8
56 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Stage III Gallbladder Cancer AJCC v8
56 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
56 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 2 2015 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
75 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 3 2016 2016