rs104894590, 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 0.120 17 42544027 missense variant G/A;T snv 1.6E-05 0.800 1.000 17 1996 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
7 0.925 0.120 17 42544027 missense variant G/A;T snv 1.6E-05 0.700 1.000 1 1998 1998