rs121913281, PIK3CA

N. diseases: 37
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.
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
9 0.623 0.520 3 179234296 missense variant C/T snv 0.800 0
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
98 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 3 2007 2016
Malignant neoplasm of floor of mouth
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
3 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 2 2011 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
114 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
34 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
118 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
153 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
102 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
80 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
66 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
99 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.623 0.520 3 179234296 missense variant C/T 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 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
80 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
69 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016