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: 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: rs7516214
rs7516214
PIK3CD
1 9651616 upstream gene variant A/G snv 0.52
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4240895
rs4240895
PIK3CD ; PIK3CD-AS1
1.000 0.120 1 9653328 non coding transcript exon variant C/T snv 0.53
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.700 1.000 1 2017 2017
dbSNP: rs4240896
rs4240896
PIK3CD ; PIK3CD-AS1
1 9653442 non coding transcript exon variant G/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs774421473
rs774421473
PIK3CD
1 9721156 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2018 2018