rs1555736565, CACNA1A

N. diseases: 3
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.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
85 0.925 0.080 19 13230191 missense variant C/A;T snv 0.700 0