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: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.710 1.000 1 2013 2017
dbSNP: rs587777595
rs587777595
NPR2 ; SPAG8
0.925 0.080 9 35807333 missense variant G/A snv
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		0.010 1.000 1 2012 2012