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: rs1006737
rs1006737
25 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.917 10 2010 2016
dbSNP: rs2535629
rs2535629
7 0.827 0.040 3 52799203 intron variant G/A;C snv 0.820 1.000 2 2013 2019
dbSNP: rs7647854
rs7647854
1 1.000 0.040 3 185158995 upstream gene variant G/A snv 0.80 0.810 1.000 1 2013 2017
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.780 1.000 8 2009 2017
dbSNP: rs12415800
rs12415800
1 1.000 0.040 10 67864422 intergenic variant G/A;C snv 0.720 1.000 2 2018 2019
dbSNP: rs1545843
rs1545843
6 0.827 0.120 12 84170289 intron variant G/A snv 0.52 0.720 1.000 2 2011 2017
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.710 1.000 1 2016 2018
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.710 1.000 1 2011 2011
dbSNP: rs139438618
rs139438618
3 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 0.710 1.000 1 2017 2017
dbSNP: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.710 1.000 1 2012 2013
dbSNP: rs2715157
rs2715157
1 1.000 0.040 7 82839058 intron variant A/G;T snv 0.710 1.000 1 2017 2017
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.710 1.000 1 2011 2016
dbSNP: rs7597593
rs7597593
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.710 1.000 1 2017 2019
dbSNP: rs9540720
rs9540720
1 1.000 0.040 13 66348573 intron variant A/G snv 0.46 0.710 1.000 1 2016 2018
dbSNP: rs6265
rs6265
264 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.862 58 2003 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.826 46 2003 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 23 2005 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 0.933 15 2000 2019
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 0.929 14 1999 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 2005 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.100 0.800 10 2010 2019
dbSNP: rs1360780
rs1360780
30 0.708 0.320 6 35639794 intron variant T/A;C snv 0.090 1.000 9 2010 2019
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.090 0.778 9 2004 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.070 0.714 7 2002 2019
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.070 0.714 7 2006 2018