rs121913283, PIK3CA

N. diseases: 16
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.
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 4 2005 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 2005 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
348 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
158 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
Megalencephaly cutis marmorata telangiectatica congenita
18 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
9 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0