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: rs7322916
rs7322916
2 13 25433839 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1805576
rs1805576
3 1.000 0.040 3 180949777 intron variant C/G;T snv 0.24 0.710 1.000 1 2016 2016
dbSNP: rs4854912
rs4854912
3 1.000 0.040 3 181063312 intron variant C/T snv 0.15 0.710 1.000 1 2016 2016
dbSNP: rs10858583
rs10858583
3 1.000 0.040 12 87334666 intergenic variant C/T snv 0.79 0.700 1.000 1 2016 2016
dbSNP: rs12149074
rs12149074
3 1.000 0.040 16 80071969 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12475512
rs12475512
2 2 231433365 downstream gene variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs13077017
rs13077017
2 3 58120049 intron variant C/T snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs13086738
rs13086738
3 1.000 0.040 3 181080939 intron variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs138206701
rs138206701
2 5 81110747 intron variant A/G snv 1.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs4148087
rs4148087
3 1.000 0.040 21 42202157 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs74566133
rs74566133
2 8 133766099 regulatory region variant C/T snv 2.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.750 8 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 0.714 7 2004 2016
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.030 1.000 3 2010 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2012 2018
dbSNP: rs1473473
rs1473473
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.020 1.000 2 2011 2013
dbSNP: rs3798577
rs3798577
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.020 1.000 2 2010 2014
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2004 2010
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs17536211
rs17536211
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2012 2012
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2010 2010