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: rs2653349
rs2653349
5 0.882 0.120 6 55277539 missense variant A/G;T snv 0.84; 4.0E-06 0.050 0.400 5 2015 2020
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.020 1.000 2 2010 2018
dbSNP: rs1800759
rs1800759
4 0.925 0.120 4 99144358 intron variant T/G snv 0.49 0.020 0.500 2 2018 2020
dbSNP: rs1006417
rs1006417
1 1.000 0.040 14 41334088 intergenic variant A/G snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs12649507
rs12649507
4 0.851 0.080 4 55514317 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12668955
rs12668955
1 1.000 0.040 7 31076553 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs147564881
rs147564881
MME
1 1.000 0.040 3 155118765 missense variant G/A;C snv 1.6E-03 0.010 < 0.001 1 2017 2017
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs1835740
rs1835740
5 0.882 0.040 8 97154685 intergenic variant T/C snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs2651899
rs2651899
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs2653342
rs2653342
1 1.000 0.040 6 55266339 intron variant A/G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs3122156
rs3122156
1 1.000 0.040 6 55218009 intron variant T/G snv 0.36 0.010 1.000 1 2019 2019