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: rs797486
rs797486
2 13 50647482 intron variant C/A snv 0.85 0.700 1.000 2 2018 2019
dbSNP: rs117496431
rs117496431
1 13 50561606 intron variant C/T snv 8.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs1262720
rs1262720
1 13 50610289 intron variant G/A;T snv 0.700 1.000 1 2019 2019