Gene: NAGLU ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs483352897
rs483352897
NAGLU
9 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
dbSNP: rs753520553
rs753520553
NAGLU
10 0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 0.700 0