rs62645752, CRB1

N. diseases: 3
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 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 1.000 1 2019 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 1.000 1 2019 2019
Amaurosis congenita of Leber, type 1
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
60 0.882 0.080 1 197328961 frameshift variant ATAGGAA/- delins 0.700 0