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: rs6535455
rs6535455
HPSE
4 0.851 0.160 4 83310951 intron variant T/A;C snv 0.010 1.000 1 2007 2007