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: rs1986405
rs1986405
1 1 200126807 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2816992
rs2816992
4 0.925 0.040 1 200100088 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs2821332
rs2821332
1 1 200116586 intron variant T/A snv 0.41 0.700 1.000 1 2018 2018