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: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs2965087
rs2965087
1 7 103471538 intron variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs161645
rs161645
2 1.000 0.040 5 104734216 intron variant A/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.030 1.000 3 2015 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2007 2007
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs7973260
rs7973260
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.020 1.000 2 2008 2019
dbSNP: rs3756290
rs3756290
1 5 131616057 intron variant A/G snv 0.56 0.010 < 0.001 1 2017 2017
dbSNP: rs7582472
rs7582472
1 2 133887223 regulatory region variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs6191
rs6191
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs138191010
rs138191010
1 7 145416641 intergenic variant G/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2010 2010