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: rs2239647
rs2239647
7 0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65 0.010 1.000 1 2019 2019
dbSNP: rs7502563
rs7502563
3 0.882 0.040 17 80947993 intron variant G/A snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs2252586
rs2252586
5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1920116
rs1920116
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.020 1.000 2 2014 2015
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2008 2008
dbSNP: rs12435998
rs12435998
4 0.851 0.200 14 81506329 intron variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1805016
rs1805016
3 0.882 0.080 16 27363606 missense variant T/G snv 6.4E-02 0.13 0.010 1.000 1 2008 2008
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11554137
rs11554137
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs117677079
rs117677079
3 0.882 0.040 4 121673909 intron variant T/C snv 8.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2013 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2016 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2016 2019
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1424913115
rs1424913115
1 1.000 0.040 3 98593250 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1553260624
rs1553260624
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs2298881
rs2298881
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs17174393
rs17174393
4 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 0