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: 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