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: rs587776934
rs587776934
PIK3R2
0.851 0.320 19 18162974 missense variant G/A snv
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.020 1.000 2 2015 2016
dbSNP: rs121918364
rs121918364
SRPX2
0.851 0.200 X 100662227 missense variant A/C snv 3.3E-05 2.9E-05
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.010 1.000 1 2006 2006
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: rs587777624
rs587777624
PIK3R2
0.925 0.240 19 18163059 missense variant T/C snv
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs886041591
rs886041591
PIK3R2
0.925 0.240 19 18162983 missense variant A/G snv
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.010 1.000 1 2016 2016