rs574936510, NR2E3

N. diseases: 1
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.
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 1.000 0.040 15 71817619 frameshift variant TTT/-;T;TT delins 4.0E-06 0.700 0