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: rs1016726
rs1016726
1 7 29316787 intron variant G/A snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs10509125
rs10509125
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1188539174
rs1188539174
1 12 40232341 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1292160648
rs1292160648
1 20 4699738 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2756271
rs2756271
1 20 4684616 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6052751
rs6052751
1 20 4664427 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6116477
rs6116477
1 20 4704015 downstream gene variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs747500244
rs747500244
1 20 4699797 missense variant A/G snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs768562045
rs768562045
1 20 4699821 missense variant A/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs775144659
rs775144659
1 20 4699816 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2012 2012
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.800 1.000 15 1999 2019
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.860 1.000 7 2008 2015
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.800 0.944 18 1995 2019
dbSNP: rs74315407
rs74315407
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.720 1.000 2 2011 2015
dbSNP: rs74315409
rs74315409
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.730 1.000 3 2010 2013
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs74315408
rs74315408
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.740 1.000 11 1993 2018
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs1800014
rs1800014
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.030 1.000 3 2000 2015
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs74315403
rs74315403
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 1.000 14 2002 2019
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs74315413
rs74315413
8 0.807 0.160 20 4699780 missense variant A/G snv 0.720 1.000 2 2000 2010