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: rs145459032
rs145459032
PIK3CG
1.000 0.080 7 106867607 missense variant A/C;G snv 2.0E-05 2.1E-05
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 1.000 1 1996 1996
dbSNP: rs12536620
rs12536620
PIK3CG
1.000 0.040 7 106904783 intron variant A/G snv 0.42
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2018 2018
dbSNP: rs17847825
rs17847825
PIK3CG
1.000 7 106868886 missense variant C/A;T snv 0.11
CUI: C2062441
Disease: Influenza A
Influenza A 		0.010 1.000 1 2018 2018
dbSNP: rs1129293
rs1129293
PIK3CG
0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293
PIK3CG
0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293
PIK3CG
0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26
CUI: C2062441
Disease: Influenza A
Influenza A 		0.010 1.000 1 2018 2018
dbSNP: rs2230460
rs2230460
PIK3CG
0.925 0.040 7 106884244 synonymous variant C/T snv 0.12 8.5E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2018 2018
dbSNP: rs2230460
rs2230460
PIK3CG
0.925 0.040 7 106884244 synonymous variant C/T snv 0.12 8.5E-02
CUI: C2062441
Disease: Influenza A
Influenza A 		0.010 1.000 1 2018 2018
dbSNP: rs1226137439
rs1226137439
PIK3CG
1.000 0.120 7 106868830 synonymous variant G/A snv 4.0E-06
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		0.010 1.000 1 2018 2018
dbSNP: rs1226994105
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs1226994105
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105
PIK3CG
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs12667819
rs12667819
PIK3CG
1.000 0.040 7 106906212 3 prime UTR variant G/A snv 0.41
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2018 2018
dbSNP: rs767132637
rs767132637
PIK3CG
1.000 0.080 7 106867617 missense variant G/A snv 1.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2012 2012
dbSNP: rs767132637
rs767132637
PIK3CG
1.000 0.080 7 106867617 missense variant G/A snv 1.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2012 2012
dbSNP: rs767132637
rs767132637
PIK3CG
1.000 0.080 7 106867617 missense variant G/A snv 1.6E-05
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs373644334
rs373644334
PIK3CG
7 106867748 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2014 2014
dbSNP: rs1412335442
rs1412335442
PIK3CG
0.925 0.120 7 106868317 missense variant G/T snv 7.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2012 2012
dbSNP: rs1412335442
rs1412335442
PIK3CG
0.925 0.120 7 106868317 missense variant G/T snv 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2012 2015