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: rs28942073
rs28942073
HEXB
4 0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04 0.010 1.000 1 2013 2013