rs748379243, ERCC8

N. diseases: 6
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.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
Cockayne Syndrome, Type I
CUI: C0751039
Disease: Cockayne Syndrome, Type I
42 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
Congestive heart failure
CUI: C0018802
Disease: Congestive heart failure
165 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0