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: rs2293889
rs2293889
2 8 115586972 intron variant T/C;G snv 2.0E-04; 0.65 0.800 1.000 4 2010 2018
dbSNP: rs2721954
rs2721954
1 8 115590876 intron variant C/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs2737203
rs2737203
1 8 115590776 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2737216
rs2737216
2 8 115617852 intron variant A/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs3808447
rs3808447
1 8 115563232 intron variant G/A snv 0.69 0.700 1.000 1 2018 2018