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: rs5844572
rs5844572
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2019 2019
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs1857066
rs1857066
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs10498070
rs10498070
2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs3129871
rs3129871
5 0.827 0.320 6 32438565 upstream gene variant A/C snv 0.59 0.700 1.000 1 2010 2010
dbSNP: rs6659932
rs6659932
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs6901221
rs6901221
2 0.925 0.160 6 33130499 downstream gene variant A/C snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs7172677
rs7172677
2 0.925 0.080 15 75132252 intergenic variant A/C snv 0.71 0.800 1.000 1 2013 2013
dbSNP: rs12531711
rs12531711
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12540874
rs12540874
3 0.882 0.280 7 50597225 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs3130573
rs3130573
1 1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33 0.800 1.000 1 2011 2011
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.030 1.000 3 2011 2017
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
dbSNP: rs10220668
rs10220668
1 1.000 0.040 14 59042487 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10912580
rs10912580
3 0.882 0.080 1 173287411 intergenic variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs11066301
rs11066301
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13101828
rs13101828
6 0.851 0.160 4 971932 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs1535001
rs1535001
2 0.925 0.080 6 34959503 intron variant A/G snv 0.47 0.800 1.000 1 2013 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs2359661
rs2359661
1 1.000 0.040 16 31269826 intron variant A/G snv 0.48 0.700 1.000 1 2013 2013