Source: ALL
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.
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
47 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015