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: rs12914385
rs12914385
18 0.790 0.160 15 78606381 intron variant C/A;T snv 0.810 1.000 7 2011 2018
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 1.000 4 2012 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.040 1.000 4 2010 2019
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.040 1.000 4 2010 2018
dbSNP: rs754388
rs754388
7 0.882 0.120 14 92649065 intron variant G/C;T snv 0.700 1.000 4 2014 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2018
dbSNP: rs1130866
rs1130866
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.030 0.667 3 2005 2014
dbSNP: rs1800463
rs1800463
2 1.000 0.040 14 94614674 missense variant T/A;C snv 0.030 1.000 3 1993 2000
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.030 1.000 3 2010 2016
dbSNP: rs1903003
rs1903003
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.710 1.000 3 2010 2015
dbSNP: rs1982073
rs1982073
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.030 0.333 3 2004 2017
dbSNP: rs2243639
rs2243639
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.030 0.667 3 2010 2019
dbSNP: rs6495309
rs6495309
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.030 1.000 3 2012 2014
dbSNP: rs11858836
rs11858836
3 1.000 0.040 15 78490935 intron variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs1529672
rs1529672
6 1.000 0.040 3 25479091 intron variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs16825267
rs16825267
3 1.000 0.040 2 228705203 intron variant C/A;G snv 0.700 1.000 2 2017 2019
dbSNP: rs1800076
rs1800076
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 2004 2008
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2013 2017
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2004 2007
dbSNP: rs2806356
rs2806356
1 1.000 0.040 6 108945052 intron variant T/C;G snv 0.700 1.000 2 2017 2019
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.710 1.000 2 1985 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2006 2015
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs729631
rs729631
3 0.882 0.040 2 223980202 non coding transcript exon variant C/A;G snv 0.020 1.000 2 2009 2012
dbSNP: rs7733088
rs7733088
5 1.000 0.040 5 148476770 intron variant G/A;C snv 0.44; 4.1E-06 0.700 1.000 2 2017 2019