APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Hyperparathyroidism, Primary ×
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: rs1485866385
rs1485866385 		1.000 0.040 5 112767287 missense variant T/G snv 1.4E-05
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs202199891
rs202199891 		0.925 0.080 5 112827969 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.010 1.000 1 2020 2020