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: rs12901499
rs12901499
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.020 0.500 2 2018 2018
dbSNP: rs1065080
rs1065080
1 1.000 0.040 15 67164997 missense variant A/G;T snv 0.87 0.010 1.000 1 2019 2019