rs147346345, CDHR1

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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 0.710 1.000 2 2019 2019
Central areolar choroidal sclerosis
CUI: C1536451
Disease: Central areolar choroidal sclerosis
5 1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 0.010 1.000 1 2019 2019