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: rs207016
rs207016
1 1.000 0.040 21 17270927 intergenic variant G/A snv 1.00 0.010 < 0.001 1 2008 2008
dbSNP: rs26318
rs26318
3 0.925 0.040 5 116352208 intron variant C/T snv 0.99 0.700 1.000 1 2019 2019
dbSNP: rs3759914
rs3759914
1 1.000 0.040 15 92393214 upstream gene variant C/T snv 0.97 0.020 1.000 2 2007 2007
dbSNP: rs324899
rs324899
2 0.925 0.040 5 88619764 intron variant A/G snv 0.97 0.700 1.000 1 2018 2018
dbSNP: rs3759916
rs3759916
1 1.000 0.040 15 92392939 upstream gene variant C/T snv 0.97 0.020 1.000 2 2007 2007
dbSNP: rs3864075
rs3864075
1 1.000 0.040 3 7659884 intron variant G/A snv 0.96 0.010 1.000 1 2015 2015
dbSNP: rs10747050
rs10747050
1 1.000 0.040 9 137161424 splice region variant G/A snv 0.94 0.95 0.010 1.000 1 2007 2007
dbSNP: rs643410
rs643410
1 1.000 0.040 9 109037283 intron variant A/C snv 0.93 0.710 1.000 1 2013 2013
dbSNP: rs133047
rs133047
3 1.000 0.040 22 40631815 intron variant T/C snv 0.93 0.700 1.000 3 2015 2019
dbSNP: rs7752195
rs7752195
2 1.000 0.040 6 25418866 intron variant T/C snv 0.93 0.700 1.000 1 2017 2017
dbSNP: rs7732249
rs7732249
1 1.000 0.040 5 60070442 intron variant C/T snv 0.92 0.700 1.000 1 2011 2011
dbSNP: rs2104425
rs2104425
4 0.925 0.040 6 40277470 upstream gene variant T/C snv 0.91 0.010 1.000 1 2017 2017
dbSNP: rs10750489
rs10750489
NTM
1 1.000 0.040 11 131786445 intron variant C/G;T snv 0.91 0.700 1.000 1 2011 2011
dbSNP: rs227932
rs227932
1 1.000 0.040 7 23584856 downstream gene variant A/G snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs1490191
rs1490191
2 1.000 0.040 1 151944275 upstream gene variant C/A snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs506597
rs506597
4 0.882 0.040 7 100715797 upstream gene variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs1521470
rs1521470
2 0.925 0.040 7 45607253 intron variant A/G snv 0.89 0.700 1.000 1 2018 2018
dbSNP: rs760816
rs760816
1 1.000 0.040 1 4796871 downstream gene variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs2486001
rs2486001
1 1.000 0.040 1 44010315 non coding transcript exon variant T/C snv 0.87 0.010 < 0.001 1 2019 2019
dbSNP: rs2255349
rs2255349
1 1.000 0.040 9 88201419 intergenic variant A/G snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs2710322
rs2710322
1 1.000 0.040 3 52783577 intron variant T/C snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs2440390
rs2440390
1 1.000 0.040 11 113416156 intron variant T/C snv 0.87 0.010 1.000 1 2013 2013
dbSNP: rs2518823
rs2518823
1 1.000 0.040 22 19972665 intron variant T/C snv 0.86 0.010 1.000 1 2009 2009
dbSNP: rs1355095
rs1355095
1 1.000 0.040 5 131913076 intron variant C/T snv 0.86 0.010 1.000 1 2008 2008
dbSNP: rs2962250
rs2962250
1 1.000 0.040 5 51094157 intergenic variant G/A snv 0.86 0.700 1.000 2 2017 2019