rs1057519942, 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.
Abnormality of the hairline
CUI: C4024297
Disease: Abnormality of the hairline
1 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Congenital duplication of intestine
CUI: C0266166
Disease: Congenital duplication of intestine
1 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Diaphragmatic Eventration
CUI: C0011981
Disease: Diaphragmatic Eventration
6 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
79 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
5 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
Squamous cell carcinoma of the head and neck
348 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
COWDEN SYNDROME 5
CUI: C3554518
Disease: COWDEN SYNDROME 5
9 0.724 0.320 3 179203760 missense variant G/A snv 0.700 0
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
13 0.724 0.320 3 179203760 missense variant G/A snv 0.010 1.000 1 2020 2020