rs137853124, RPGRIP1

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.
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.040 14 21294785 stop gained G/A snv 0.700 1.000 1 2019 2019
LEBER CONGENITAL AMAUROSIS 6 (disorder)
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
19 0.925 0.040 14 21294785 stop gained G/A snv 0.700 0