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: rs746006696
rs746006696
NAGLU
2 0.925 0.120 17 42543997 missense variant C/T snv 4.1E-06 7.0E-06 0.700 1.000 4 2005 2015
dbSNP: rs752131463
rs752131463
NAGLU
1 1.000 17 42541070 frameshift variant C/- delins 8.0E-06 0.700 1.000 4 2005 2015