rs104894592, NAGLU

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.
MPS III B
CUI: C0086648
Disease: MPS III B
92 0.925 0.160 17 42541074 stop gained C/T snv 5.6E-05 9.8E-05 0.710 1.000 12 1996 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.160 17 42541074 stop gained C/T snv 5.6E-05 9.8E-05 0.010 1.000 1 2017 2017