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: rs1172486173
rs1172486173
11 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1553621496
rs1553621496
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs185476065
rs185476065
11 0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.700 0
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2010 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2010 2020
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.020 1.000 2 2008 2015
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.020 1.000 2 2007 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs13130123
rs13130123
1 4 143587435 intron variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs2298383
rs2298383
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs33458
rs33458
2 1.000 0.040 3 42362535 intergenic variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3825172
rs3825172
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4822492
rs4822492
4 1.000 0.040 22 24447626 intron variant C/G snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs619002
rs619002
2 1.000 0.040 2 31266099 intron variant C/T snv 0.86 0.010 1.000 1 2012 2012
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2019 2019
dbSNP: rs644926
rs644926
2 1.000 0.040 2 31266861 3 prime UTR variant T/C snv 0.86 0.010 1.000 1 2012 2012
dbSNP: rs6985606
rs6985606
4 0.882 0.080 8 53248556 intron variant T/C snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs74315403
rs74315403
10 0.790 0.200 20 4699752 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs74315408
rs74315408
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017