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: rs121917893
rs121917893
10 0.807 0.160 X 71167508 missense variant C/T snv 0.080 1.000 8 2004 2019
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.070 1.000 7 2007 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2009 2019
dbSNP: rs1861972
rs1861972
EN2
2 0.925 0.040 7 155461298 intron variant G/A snv 0.72 0.060 1.000 6 2004 2014
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.040 1.000 4 2005 2014
dbSNP: rs2056202
rs2056202
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.040 1.000 4 2008 2017
dbSNP: rs2292813
rs2292813
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2008 2017
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2009 2013
dbSNP: rs7794745
rs7794745
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 1.000 4 2010 2019
dbSNP: rs167771
rs167771
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.030 1.000 3 2008 2019
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.030 1.000 3 2011 2019
dbSNP: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.030 1.000 3 2014 2018
dbSNP: rs3796863
rs3796863
8 0.790 0.160 4 15848363 intron variant G/T snv 0.41 0.030 1.000 3 2010 2012
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.030 1.000 3 2010 2012
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2013 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2009 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2009 2017
dbSNP: rs1023159
rs1023159
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 2019
dbSNP: rs10951154
rs10951154
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.020 0.500 2 2011 2012
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs16835979
rs16835979
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.020 1.000 2 2014 2016
dbSNP: rs1800561
rs1800561
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.020 1.000 2 2010 2012
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2018 2019