rs104894473, GPHN;RDH12

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 13
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
20 1.000 0.040 14 67724556 missense variant T/A;C snv 0.800 1.000 2 2004 2004