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.
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.100 1.000 13 2006 2020
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.010 1.000 1 2006 2006
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.010 1.000 1 2006 2006
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.010 1.000 1 2006 2006
SCLEROSING CHOLANGITIS, NEONATAL
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
9 0.827 0.120 6 24357658 missense variant C/T snv 8.1E-06 0.010 1.000 1 2019 2019