rs121908216, CACNA1A

N. diseases: 7
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.
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.882 0.200 19 13235702 missense variant C/T snv 0.800 1.000 15 1996 2011
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0