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: rs1194182
rs1194182
2 1.000 0.080 7 80602188 5 prime UTR variant G/C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs12477677
rs12477677
2 1.000 0.080 2 207666398 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12596308
rs12596308
2 0.925 0.120 16 29679875 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12998782
rs12998782
3 0.882 0.160 2 118967804 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1327474
rs1327474
2 0.925 0.080 6 137219938 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs1327475
rs1327475
2 0.925 0.080 6 137215318 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1371329921
rs1371329921
2 0.925 0.080 9 117712993 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1371562
rs1371562
1 1.000 0.080 2 118975372 intron variant G/T snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs1372834938
rs1372834938
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2003 2003
dbSNP: rs138968705
rs138968705
2 0.925 0.080 4 38828278 missense variant G/A snv 1.2E-04 2.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs141555015
rs141555015
1 1.000 0.080 6 32839023 upstream gene variant GCTTTGTAATTGGAGAAT/- delins 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs15493
rs15493
1 1.000 0.080 14 67651415 missense variant C/G;T snv 9.2E-02 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1568952
rs1568952
1 1.000 0.080 8 58799804 intergenic variant T/C snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs16826860
rs16826860
1 1.000 0.080 2 230182908 intron variant G/A snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs17009726
rs17009726
1 1.000 0.080 2 118967884 intron variant A/G snv 1.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17795618
rs17795618
1 1.000 0.080 2 118973892 intron variant T/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs17842268
rs17842268
2 0.925 0.120 16 29672859 intron variant T/C snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs17886395
rs17886395
2 0.925 0.120 10 79558907 missense variant C/G snv 0.19 0.16 0.010 1.000 1 2002 2002
dbSNP: rs1799864
rs1799864
66 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2011 2011