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: 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: rs1057519927
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2006 2018
dbSNP: rs1057519927
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2006 2018
dbSNP: rs121913273
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 14 2004 2016
dbSNP: rs867262025
rs867262025
PIK3CA
0.790 0.360 3 179221146 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2006 2018
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 13 2004 2016
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.710 1.000 12 2004 2016
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 12 2004 2016
dbSNP: rs121913273
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 12 2004 2014
dbSNP: rs121913273
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 12 2004 2016
dbSNP: rs121913274
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 12 2004 2016
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 11 2004 2012
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 11 2004 2012
dbSNP: rs121913286
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 11 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 11 2004 2016
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: rs121913274
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 10 2004 2016
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.740 1.000 10 2004 2016
dbSNP: rs121913286
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 9 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 9 2004 2016
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: rs121913283
rs121913283
PIK3CA
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 4 2005 2012
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 4 2006 2010
dbSNP: rs1064793732
rs1064793732
PIK3CA
0.882 0.320 3 179204536 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 3 2008 2016
dbSNP: rs121913281
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 3 2007 2016