Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519699
rs1057519699
PIK3CA
3 179218315 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 10 2004 2012
dbSNP: rs1057519699
rs1057519699
PIK3CA
3 179218315 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 8 2004 2012
dbSNP: rs121913285
rs121913285
PIK3CA
3 179218286 missense variant C/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs587777791
rs587777791
PIK3CA
1.000 3 179199740 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 0 2013 2013
dbSNP: rs587777792
rs587777792
PIK3CA
1.000 3 179201379 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 0 2013 2013
dbSNP: rs587777793
rs587777793
PIK3CA
1.000 3 179204509 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 0 2013 2013
dbSNP: rs587777794
rs587777794
PIK3CA
1.000 3 179204588 missense variant G/A snv 7.0E-06
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.800 1.000 0 2013 2013
dbSNP: rs587777796
rs587777796
PIK3CA
1.000 3 179219719 stop gained T/G snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		0.700 0
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2005 2014
dbSNP: rs1553826166
rs1553826166
PIK3CA
1.000 0.080 3 179234231 missense variant C/G snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs1560137609
rs1560137609
PIK3CA
0.925 0.080 3 179199743 frameshift variant -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1560137609
rs1560137609
PIK3CA
0.925 0.080 3 179199743 frameshift variant -/T delins
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0
dbSNP: rs397517200
rs397517200
PIK3CA
1.000 0.080 3 179210293 inframe deletion AGATTTGCTGAACCC/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
1.000 0.080 3 179234358 frameshift variant -/A delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
1.000 0.080 3 179234358 frameshift variant -/A delins
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 0
dbSNP: rs1560137208
rs1560137208
PIK3CA
1.000 0.120 3 179199073 missense variant T/C snv
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		0.700 0
dbSNP: rs863225060
rs863225060
PIK3CA
0.925 0.120 3 179199136 missense variant C/T snv
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0
dbSNP: rs121913284
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 3 2009 2016
dbSNP: rs121913284
rs121913284
PIK3CA
0.776 0.160 3 179203765 missense variant T/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2014 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016