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: rs3916965
rs3916965
4 0.882 0.040 13 105451011 intergenic variant C/T snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs4436578
rs4436578
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs5174
rs5174
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.700 1.000 1 2014 2014
dbSNP: rs6589386
rs6589386
2 1.000 0.040 11 113573031 intergenic variant C/T snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs701492
rs701492
2 1.000 0.040 2 170845970 intron variant C/T snv 0.30 0.28 0.010 1.000 1 2017 2017
dbSNP: rs737864
rs737864
2 1.000 0.040 22 19942636 intron variant C/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs7600871
rs7600871
2 2 133257389 intron variant C/T snv 0.16 0.700 1.000 1 2010 2010
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: rs934945
rs934945
10 0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.960 25 1997 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.070 0.857 7 2007 2017
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.730 1.000 4 2011 2017
dbSNP: rs4281084
rs4281084
2 1.000 0.040 8 31637858 upstream gene variant G/A snv 0.22 0.020 1.000 2 2013 2018
dbSNP: rs1009080
rs1009080
2 1 29958713 intergenic variant G/A snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs10462023
rs10462023
1 2 238275940 intron variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs10496702
rs10496702
2 2 133247997 intron variant G/A snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs11164835
rs11164835
2 1 92913536 intron variant G/A snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs1126442
rs1126442
2 1.000 0.040 9 137156924 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2013 2013
dbSNP: rs12196860
rs12196860
2 1.000 0.040 6 56085576 intron variant G/A snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs12966547
rs12966547
7 0.827 0.040 18 55084786 intergenic variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs17069122
rs17069122
2 6 108002555 downstream gene variant G/A snv 1.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs17110747
rs17110747
4 0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2014 2014