rs397514565, PIK3CA

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
9 0.882 0.240 3 179204576 missense variant G/A snv 0.800 1.000 0 2012 2016
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
98 0.882 0.240 3 179204576 missense variant G/A snv 0.700 0
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
8 0.882 0.240 3 179204576 missense variant G/A snv 0.700 0