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: rs80356711
rs80356711
4 1.000 20 4699698 stop gained C/T snv 0.700 0
dbSNP: rs80356710
rs80356710
3 0.925 0.040 20 4699655 stop gained T/G snv 0.730 1.000 3 2011 2019
dbSNP: rs10994443
rs10994443
2 1.000 0.040 10 60635760 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs1994090
rs1994090
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4538475
rs4538475
2 1.000 0.040 4 15736314 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs947211
rs947211
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs267606980
rs267606980
2 1.000 0.080 20 4699600 missense variant G/T snv 4.0E-06 0.030 1.000 3 2017 2020
dbSNP: rs11767557
rs11767557
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs12734001
rs12734001
2 1.000 0.080 1 202421786 intron variant C/T snv 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs597668
rs597668
3 0.925 0.080 19 45205630 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs670139
rs670139
3 0.925 0.080 11 60204322 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9349407
rs9349407
2 1.000 0.080 6 47485642 intron variant G/C snv 0.23 0.700 1.000 1 2012 2012