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: rs2295888
rs2295888
EDEM2 ; MMP24-AS1-EDEM2
3 20 35135060 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs561241
rs561241
F7
3 13 113105720 upstream gene variant T/C;G snv 0.700 1.000 1 2012 2012