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: rs9983925
rs9983925
4 21 45216929 intron variant C/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs993804
rs993804
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs9834970
rs9834970
9 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs9804190
rs9804190
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs945032
rs945032
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs886424
rs886424
10 0.776 0.320 6 30814225 non coding transcript exon variant C/T snv 7.1E-02 8.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 1.000 1 2013 2013
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs802568
rs802568
4 0.925 0.040 7 146262151 intron variant T/G snv 0.17 0.800 1.000 1 2010 2010
dbSNP: rs802524
rs802524
2 7 146254550 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs7872515
rs7872515
4 0.925 0.040 9 92060258 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs781720548
rs781720548
5 0.882 0.040 20 35652946 stop gained C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs7727102
rs7727102
2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs771065515
rs771065515
2 1 156115240 missense variant A/G snv 2.5E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs7600871
rs7600871
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2015
dbSNP: rs736707
rs736707
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs7341475
rs7341475
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs7248363
rs7248363
2 19 18357076 intron variant T/C snv 0.74 0.800 1.000 1 2010 2010
dbSNP: rs7224199
rs7224199
7 0.827 0.160 17 30196708 3 prime UTR variant G/T snv 0.49 0.010 < 0.001 1 2020 2020
dbSNP: rs7219021
rs7219021
4 0.925 0.040 17 48763179 intron variant T/G snv 0.26 0.700 1.000 1 2014 2014