rs386833744, CLN3

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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05 0.700 0
Juvenile Neuronal Ceroid Lipofuscinosis
73 0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05 0.800 1.000 4 1997 2012