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: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs9549153
rs9549153
LINC00598
2 13 40293411 intron variant G/A snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs992037
rs992037
PRKN
2 6 161580404 intron variant T/C snv 0.71 0.700 1.000 1 2008 2008