Source: BEFREE

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: rs71310379
rs71310379
PIK3CA
3 179199003 missense variant C/A snv 4.4E-05 4.2E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2013 2015
dbSNP: rs1260908401
rs1260908401
PIK3CA
1.000 3 179203565 missense variant C/T snv 4.0E-06
CUI: C4479709
Disease: FCD IIB
FCD IIB 		0.010 1.000 1 2006 2006
dbSNP: rs778184105
rs778184105
PIK3CA
3 179199098 missense variant C/A snv 4.1E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2010 2010
dbSNP: rs778184105
rs778184105
PIK3CA
3 179199098 missense variant C/A snv 4.1E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1607237
rs1607237
PIK3CA
1.000 0.040 3 179232509 intron variant C/T snv 0.68
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs4855094
rs4855094
PIK3CA
1.000 0.040 3 179160189 intron variant G/A snv 0.10
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.010 1.000 1 2011 2011
dbSNP: rs7621329
rs7621329
PIK3CA
1.000 0.040 3 179157086 intron variant C/T snv 0.26
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs7640662
rs7640662
PIK3CA
1.000 0.040 3 179184213 intron variant C/G snv 0.10
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs7646409
rs7646409
PIK3CA
0.882 0.040 3 179182405 intron variant T/C snv 0.26
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2013 2013
dbSNP: rs7646409
rs7646409
PIK3CA
0.882 0.040 3 179182405 intron variant T/C snv 0.26
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2013 2013
dbSNP: rs7646409
rs7646409
PIK3CA
0.882 0.040 3 179182405 intron variant T/C snv 0.26
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2013 2013
dbSNP: rs7646409
rs7646409
PIK3CA
0.882 0.040 3 179182405 intron variant T/C snv 0.26
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs9866361
rs9866361
PIK3CA
0.882 0.040 3 179190061 intron variant G/A snv 0.24
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2013 2013
dbSNP: rs9866361
rs9866361
PIK3CA
0.882 0.040 3 179190061 intron variant G/A snv 0.24
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2013 2013
dbSNP: rs9866361
rs9866361
PIK3CA
0.882 0.040 3 179190061 intron variant G/A snv 0.24
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2013 2013
dbSNP: rs12494623
rs12494623
PIK3CA
1.000 0.080 3 179214763 intron variant C/G;T snv
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs141178472
rs141178472
PIK3CA
0.925 0.080 3 179234393 3 prime UTR variant T/C snv 3.0E-03 3.3E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs141178472
rs141178472
PIK3CA
0.925 0.080 3 179234393 3 prime UTR variant T/C snv 3.0E-03 3.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1442481831
rs1442481831
PIK3CA
0.925 0.080 3 179203635 missense variant T/C snv
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2018 2018
dbSNP: rs1442481831
rs1442481831
PIK3CA
0.925 0.080 3 179203635 missense variant T/C snv
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 1.000 1 2018 2018
dbSNP: rs2677764
rs2677764
PIK3CA
0.925 0.080 3 179206019 intron variant C/A;T snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2011 2011
dbSNP: rs2677764
rs2677764
PIK3CA
0.925 0.080 3 179206019 intron variant C/A;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2011 2011