rs864309483, ADCY5

N. diseases: 9
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.080 3 123352464 missense variant G/A snv 0.700 1.000 22 1992 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.851 0.080 3 123352464 missense variant G/A snv 0.700 1.000 22 1992 2017
Dyskinesia, Familial, with Facial Myokymia
CUI: C1847627
Disease: Dyskinesia, Familial, with Facial Myokymia
5 0.851 0.080 3 123352464 missense variant G/A snv 0.700 1.000 2 2001 2014
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
Facial Myokymia
CUI: C0270871
Disease: Facial Myokymia
1 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
Upper limb hypertonia
CUI: C4021898
Disease: Upper limb hypertonia
4 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0