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: rs776234219
rs776234219
1 1.000 0.040 12 102419531 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs2288377
rs2288377
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs5742612
rs5742612
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs373115603
rs373115603
SDS
1 1.000 0.040 12 113398557 missense variant G/A snv 1.3E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs33997857
rs33997857
1 1.000 0.040 2 11787112 missense variant G/A;T snv 1.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs6708316
rs6708316
2 0.925 0.080 2 11797032 intron variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs148969251
rs148969251
1 1.000 0.040 11 120480110 missense variant A/G snv 3.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs2014355
rs2014355
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1033656351
rs1033656351
7 0.827 0.160 12 121232997 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 1.000 9 1999 2013
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.090 1.000 9 1999 2013
dbSNP: rs9402571
rs9402571
4 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs2918419
rs2918419
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.030 1.000 3 2000 2000
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs683369
rs683369
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1057518775
rs1057518775
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0