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: rs4693608
rs4693608
HPSE
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.020 1.000 2 2010 2014