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: rs397514565
rs397514565
PIK3CA
0.882 0.240 3 179204576 missense variant G/A snv
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.800 1.000 2 2012 2016
dbSNP: rs397514565
rs397514565
PIK3CA
0.882 0.240 3 179204576 missense variant G/A snv
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0
dbSNP: rs397514565
rs397514565
PIK3CA
0.882 0.240 3 179204576 missense variant G/A snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0