rs778899140, PDE10A

N. diseases: 5
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.
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
3 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.800 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
Hyperkinesia
CUI: C3887506
Disease: Hyperkinesia
6 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016