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
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: rs14271
rs14271
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: rs4240895
rs4240895
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
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: rs7516138
rs7516138
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
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
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: rs28730670
rs28730670
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
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
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
0.700 0
dbSNP: rs397518423
rs397518423
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.700 0
dbSNP: rs397518423
rs397518423
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
0.700 0
dbSNP: rs587777389
rs587777389
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
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: rs1229729609
rs1229729609
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
1 9720852 frameshift variant GGCGCTAGCCCGGC/- del 4.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2018 2018
dbSNP: rs138742347
rs138742347
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
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
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
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
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
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
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: rs545136223
rs545136223
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
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