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: rs751039340
rs751039340
ARSA
3 0.882 0.120 22 50625459 missense variant C/A snv 4.2E-06 0.010 1.000 1 2015 2015