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: rs1017086766
rs1017086766
PIK3R1
1.000 0.080 5 68226779 missense variant G/A;C snv 8.0E-06
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs1267812755
rs1267812755
PIK3R1
1.000 0.080 5 68290729 start lost A/G snv
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME 		0.010 1.000 1 2019 2019