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: 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: 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: 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: C0278764
Disease: Adult Burkitt Lymphoma
Adult 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: 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: 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: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.010 1.000 1 2019 2019
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: 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2004 2004
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: 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: 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
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
dbSNP: rs768827923
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2018 2018
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: 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