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: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2005 2014
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012