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: rs4825476
rs4825476
2 0.925 0.040 X 123307628 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.090 0.778 9 1999 2016
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs2075507
rs2075507
2 0.925 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2097603
rs2097603
3 0.882 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs762178
rs762178
2 0.925 0.040 21 33027093 synonymous variant A/G snv 0.51 0.53 0.030 1.000 3 2007 2019
dbSNP: rs9653711
rs9653711
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.030 1.000 3 2007 2019
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.020 1.000 2 2007 2015
dbSNP: rs13046814
rs13046814
1 1.000 0.040 21 33029069 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs2834070
rs2834070
2 0.925 0.040 21 33015144 intron variant G/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs6517137
rs6517137
3 0.882 0.120 21 33028471 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs6109227
rs6109227
1 1.000 0.040 20 12018497 intergenic variant A/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131293
rs6131293
1 1.000 0.040 20 12014779 intergenic variant A/G snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131295
rs6131295
1 1.000 0.040 20 12015619 regulatory region variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1148374
rs1148374
1 1.000 0.040 18 28070318 intron variant T/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs12605662
rs12605662
1 1.000 0.040 18 28171702 intron variant G/A snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs201333291
rs201333291
1 1.000 0.040 18 27985092 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs2097063
rs2097063
1 1.000 0.040 18 73963859 intron variant T/C snv 0.19 0.010 < 0.001 1 2015 2015
dbSNP: rs2289664
rs2289664
2 0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.600 5 2007 2018
dbSNP: rs25532
rs25532
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.030 0.667 3 2008 2018
dbSNP: rs16965628
rs16965628
3 0.882 0.040 17 30228407 intron variant G/C snv 0.14 0.020 0.500 2 2015 2018
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.020 1.000 2 2011 2013
dbSNP: rs3785817
rs3785817
GRN
1 1.000 0.040 17 44346297 intron variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs4785741
rs4785741
2 1.000 0.040 16 89939045 downstream gene variant T/C snv 0.47 0.700 1.000 1 2017 2017