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: 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: 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: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 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: rs1021479
rs1021479
2 16 85923808 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10956483
rs10956483
3 8 129559864 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs112313229
rs112313229
2 3 46323369 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs112721625
rs112721625
2 17 59850066 upstream gene variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs113760175
rs113760175
3 6 22343363 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs113899791
rs113899791
2 16 85902784 5 prime UTR variant GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT delins 0.700 1.000 1 2016 2016
dbSNP: rs114208039
rs114208039
2 6 31273862 intron variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1157008
rs1157008
3 9 88920798 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11640143
rs11640143
2 16 85955858 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11642657
rs11642657
3 16 85982722 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs117424492
rs117424492
2 15 79975053 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117533700
rs117533700
2 19 13065914 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11775706
rs11775706
2 8 6843366 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11992162
rs11992162
2 8 11979005 upstream gene variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12151289
rs12151289
3 19 33260946 intergenic variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12232384
rs12232384
2 16 85976154 intron variant C/A;T snv 0.700 1.000 1 2016 2016