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: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.820 1.000 2 2006 2018
dbSNP: rs1229729609
rs1229729609
PIK3CD
1.000 0.080 1 9715706 missense variant G/A snv 8.0E-06
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.010 1.000 1 2019 2019
dbSNP: rs1374013062
rs1374013062
PIK3CD
1 9720852 frameshift variant GGCGCTAGCCCGGC/- del 4.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs138742347
rs138742347
PIK3CD
1.000 0.120 1 9722244 splice region variant C/T snv 5.8E-04 2.5E-03
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs148838884
rs148838884
PIK3CD
1.000 0.120 1 9722067 synonymous variant C/T snv 4.4E-05 5.6E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C1701919
Disease: EBV viremia
EBV viremia 		0.010 1.000 1 2017 2017
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.010 1.000 1 2017 2017
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs545136223
rs545136223
PIK3CD
1.000 0.200 1 9720653 missense variant G/A snv 6.3E-05 1.2E-04
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs748011804
rs748011804
PIK3CD
1.000 0.120 1 9718800 missense variant A/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.010 1.000 1 2019 2019
dbSNP: rs750392184
rs750392184
PIK3CD
0.882 0.160 1 9724850 missense variant G/A snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2008 2008
dbSNP: rs750392184
rs750392184
PIK3CD
0.882 0.160 1 9724850 missense variant G/A snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs750392184
rs750392184
PIK3CD
0.882 0.160 1 9724850 missense variant G/A snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2004 2004
dbSNP: rs753025128
rs753025128
PIK3CD
1.000 0.160 1 9720755 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs755725121
rs755725121
PIK3CD
0.882 0.080 1 9716029 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs755725121
rs755725121
PIK3CD
0.882 0.080 1 9716029 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2016 2016
dbSNP: rs755725121
rs755725121
PIK3CD
0.882 0.080 1 9716029 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2016 2016
dbSNP: rs755725121
rs755725121
PIK3CD
0.882 0.080 1 9716029 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2016 2016
dbSNP: rs759640288
rs759640288
PIK3CD
1.000 0.080 1 9720853 missense variant G/A snv 8.3E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs765797019
rs765797019
PIK3CD
1 9720754 missense variant C/T snv 3.3E-05 3.5E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs765798990
rs765798990
PIK3CD
0.925 0.120 1 9717609 missense variant G/A;T snv 4.0E-06
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 1.000 1 2016 2016
dbSNP: rs765798990
rs765798990
PIK3CD
0.925 0.120 1 9717609 missense variant G/A;T snv 4.0E-06
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.010 1.000 1 2016 2016
dbSNP: rs766440014
rs766440014
PIK3CD
1.000 0.040 1 9715556 missense variant G/A snv 8.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2019 2019