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: rs10980800
rs10980800
3 9 111153625 intron variant T/C snv 0.21 0.700 1.000 3 2011 2017
dbSNP: rs1449263
rs1449263
5 1.000 0.080 2 181454574 upstream gene variant C/T snv 0.56 0.700 1.000 3 2011 2018
dbSNP: rs2124440
rs2124440
2 2 181463487 intron variant G/A snv 0.55 0.700 1.000 3 2013 2017
dbSNP: rs2228468
rs2228468
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.700 1.000 3 2013 2018
dbSNP: rs9880192
rs9880192
5 1.000 0.040 3 128578726 upstream gene variant G/A;C snv 0.31 0.700 1.000 3 2011 2017
dbSNP: rs10980797
rs10980797
3 9 111150273 intron variant A/G;T snv 0.700 1.000 2 2016 2018
dbSNP: rs1892548
rs1892548
2 13 40428504 intron variant T/A;C snv 0.700 1.000 2 2016 2018
dbSNP: rs1991866
rs1991866
3 8 129611859 intron variant G/A;C snv 0.700 1.000 2 2014 2017
dbSNP: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2013 2016
dbSNP: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.700 1.000 2 2016 2018
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 2 2017 2019
dbSNP: rs3095254
rs3095254
3 6 31253891 intergenic variant C/A;G snv 0.55 0.700 1.000 2 2011 2014
dbSNP: rs445
rs445
9 7 92779056 intron variant C/T snv 0.14 0.700 1.000 2 2016 2018
dbSNP: rs4970966
rs4970966
2 1 150611627 intron variant G/T snv 0.16 0.700 1.000 2 2016 2018
dbSNP: rs76428106
rs76428106
10 0.851 0.040 13 28029870 intron variant T/C;G snv 0.700 1.000 2 2016 2017
dbSNP: rs10098310
rs10098310
3 8 129601368 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10147992
rs10147992
3 14 25034593 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10168795
rs10168795
2 2 224888625 intron variant A/G snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs1021479
rs1021479
2 16 85923808 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10276619
rs10276619
3 1.000 0.080 7 50273756 downstream gene variant G/A snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs1037171
rs1037171
2 17 74706839 intron variant G/A snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs10418046
rs10418046
3 19 53824615 upstream gene variant T/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs1042133
rs1042133
2 6 33080829 missense variant G/C snv 0.14 0.15 0.700 1.000 1 2016 2016
dbSNP: rs10489481
rs10489481
2 1 185422035 regulatory region variant G/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10751647
rs10751647
2 11 306884 upstream gene variant T/C snv 0.49 0.700 1.000 1 2016 2016