rs1557110499, CACNA1F

N. diseases: 2
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.
Night blindness, congenital stationary
CUI: C0339535
Disease: Night blindness, congenital stationary
52 0.925 0.080 X 49228311 inframe deletion AAG/- delins 0.700 1.000 1 2001 2001
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.925 0.080 X 49228311 inframe deletion AAG/- delins 0.700 0