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.
Autonomic neuropathy
CUI: C0259749
Disease: Autonomic neuropathy
7 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
leukemia
CUI: C0023418
Disease: leukemia
144 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
6 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017