Source: ALL

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: rs28730670
rs28730670
PIK3CD
1.000 0.080 1 9717608 missense variant C/A;G;T snv 1.4E-03
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.700 0
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.700 0
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.700 0
dbSNP: rs587777389
rs587777389
PIK3CD
1.000 0.080 1 9720793 missense variant G/A snv
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.700 0
dbSNP: rs587777390
rs587777390
PIK3CD
1.000 0.080 1 9719924 missense variant T/C snv
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.700 0
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: 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 8 2006 2018
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: rs14271
rs14271
PIK3CD ; CLSTN1
1.000 0.080 1 9729092 3 prime UTR variant C/T snv 2.2E-02
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2015 2015
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: 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: 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: rs7516138
rs7516138
PIK3CD
1 9651584 upstream gene variant A/G snv 0.52
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs7516138
rs7516138
PIK3CD
1 9651584 upstream gene variant A/G snv 0.52
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		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: C0011847
Disease: Diabetes
Diabetes 		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: 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: 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