rs1114167292, RUBCN

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.
Cerebral hypomyelination
CUI: C2677328
Disease: Cerebral hypomyelination
6 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0