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: rs143383
rs143383
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.030 1.000 3 2011 2018
dbSNP: rs1042631
rs1042631
1 1.000 0.040 15 88859008 synonymous variant T/A;C snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs1420106
rs1420106
5 0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs2073711
rs2073711
7 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 0.010 1.000 1 2009 2009
dbSNP: rs4233367
rs4233367
2 0.925 0.040 1 161193247 missense variant T/A;C snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019