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: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 0.867 15 2011 2020
dbSNP: rs1034936
rs1034936
3 0.882 0.080 12 2551994 intron variant C/T snv 0.61 0.010 1.000 1 2020 2020
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs1333045
rs1333045
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs3803300
rs3803300
6 0.827 0.120 14 104803442 3 prime UTR variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs7224199
rs7224199
7 0.827 0.160 17 30196708 3 prime UTR variant G/T snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.842 38 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.833 36 2004 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.964 28 2008 2019
dbSNP: rs9834970
rs9834970
9 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.810 1.000 10 2010 2019
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.060 1.000 6 2006 2019
dbSNP: rs9371601
rs9371601
8 0.790 0.120 6 152469438 intron variant G/T snv 0.46 0.820 1.000 6 2011 2019
dbSNP: rs11013860
rs11013860
1 1.000 0.040 10 18365098 intron variant A/C;G snv 0.11 0.020 1.000 2 2014 2019
dbSNP: rs2302417
rs2302417
1 1.000 0.040 3 52780240 non coding transcript exon variant T/A snv 0.44; 3.1E-03; 1.5E-04; 1.0E-05 0.42 0.700 1.000 2 2017 2019
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.700 1.000 2 2013 2019
dbSNP: rs9525580
rs9525580
1 1.000 0.040 13 42146563 intron variant G/A snv 0.23 0.020 1.000 2 2016 2019
dbSNP: rs9525584
rs9525584
2 0.925 0.040 13 42160758 intron variant T/C snv 0.46 0.020 1.000 2 2016 2019
dbSNP: rs994856
rs994856
2 0.925 0.040 13 42134315 intron variant A/G snv 0.37 0.020 1.000 2 2016 2019
dbSNP: rs10035291
rs10035291
1 1.000 0.040 5 81500549 intron variant T/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs10058613
rs10058613
2 0.925 0.040 5 138358306 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10168049
rs10168049
1 1.000 0.040 2 121320830 intergenic variant A/G snv 0.16 0.710 1.000 1 2019 2019
dbSNP: rs1033656351
rs1033656351
7 0.827 0.160 12 121232997 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019