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: rs1209523
rs1209523
2 1.000 0.080 20 22587304 upstream gene variant C/T snv 0.14 0.700 1.000 2 2010 2019
dbSNP: rs6048216
rs6048216
1 20 22600630 intron variant T/C snv 0.17 0.700 1.000 2 2015 2019