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: rs122453121
rs122453121
GPC3
0.925 0.440 X 133699902 stop gained G/A snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.700 1.000 3 2007 2014
dbSNP: rs122453121
rs122453121
GPC3
0.925 0.440 X 133699902 stop gained G/A snv
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		0.700 0