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: 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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.030 1.000 3 2004 2008
dbSNP: rs17075286
rs17075286
2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs2054399
rs2054399
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2239547
rs2239547
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.010 1.000 1 2013 2013
dbSNP: rs6444931
rs6444931
2 3 170445686 intron variant G/A snv 0.85 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: rs993804
rs993804
2 3 25070680 intron variant C/T snv 0.75 0.800 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2015 2015
dbSNP: rs17746001
rs17746001
4 0.925 0.040 4 179734472 intergenic variant C/T snv 5.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs7687423
rs7687423
3 0.925 0.080 4 163329645 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs11740562
rs11740562
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs7727102
rs7727102
2 5 4720472 intron variant G/C snv 0.32 0.800 1.000 1 2010 2010
dbSNP: rs1039002
rs1039002
5 0.851 0.080 6 165741969 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2015 2015
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: rs12201676
rs12201676
4 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs12527359
rs12527359
2 6 89018502 intergenic variant T/A snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs13211507
rs13211507
4 0.882 0.200 6 28289600 intron variant T/C snv 6.4E-02 0.700 1.000 1 2014 2014
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs17069122
rs17069122
2 6 108002555 downstream gene variant G/A snv 1.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2014 2014