rs1555968941, CACNA1C

N. diseases: 31
Source: CURATED ×
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.
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
7 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
120 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Slowed horizontal saccades
CUI: C1856477
Disease: Slowed horizontal saccades
1 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Thin lips
CUI: C0578038
Disease: Thin lips
8 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
21 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0