APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Hepatoblastoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854578
rs137854578 		1.000 0.040 5 112839777 missense variant A/T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		Neoplasms 0.700 0
dbSNP: rs137854573
rs137854573 		0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs137854574
rs137854574 		0.925 0.120 5 112828919 stop gained C/T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		Neoplasms 0.010 1.000 1 2018 2018