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: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.060 1.000 6 2014 2017
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.900 1.000 18 2009 2019
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs10776934
rs10776934
1 1.000 0.080 9 135137855 regulatory region variant T/G snv 0.74 0.800 1.000 1 2012 2012
dbSNP: rs1293762
rs1293762
1 1.000 0.080 12 112993031 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1126579
rs1126579
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs11966728
rs11966728
1 1.000 0.080 6 131955465 intron variant T/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs12980602
rs12980602
1 1.000 0.080 19 39262180 upstream gene variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs12989760
rs12989760
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2019 2019
dbSNP: rs3747517
rs3747517
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2019 2019
dbSNP: rs5998152
rs5998152
5 0.827 0.160 22 31867176 intron variant T/C snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs6139030
rs6139030
1 1.000 0.080 20 3207087 upstream gene variant T/C snv 8.6E-02 0.800 1.000 1 2011 2011
dbSNP: rs8103142
rs8103142
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.700 1.000 1 2009 2009
dbSNP: rs965469
rs965469
1 1.000 0.080 20 3400902 intron variant T/C snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2016 2018
dbSNP: rs10814325
rs10814325
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2267716
rs2267716
4 0.851 0.120 7 30677027 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1863918
rs1863918
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs9695310
rs9695310
4 0.851 0.120 9 32464137 intron variant G/C snv 0.52 0.010 1.000 1 2019 2019