rs61750135, ABCA4

N. diseases: 2
Source: CLINVAR ×
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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
210 1.000 1 94031027 missense variant A/G snv 1.6E-05 1.4E-05 0.800 1.000 5 1997 2017
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
218 1.000 1 94031027 missense variant A/G snv 1.6E-05 1.4E-05 0.700 1.000 1 2016 2016