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: rs6450176
rs6450176
4 5 54002195 intron variant G/A snv 0.27 0.800 1.000 4 2010 2018
dbSNP: rs1694068
rs1694068
4 5 53987800 intron variant T/A snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs28499105
rs28499105
1 5 53978637 intron variant G/A snv 0.67 0.700 1.000 1 2018 2018