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: rs10519177
rs10519177
2 0.925 0.040 15 48464998 intron variant A/G snv 0.35 0.020 0.500 2 2014 2015
dbSNP: rs2118181
rs2118181
6 0.851 0.040 15 48623687 intron variant T/C snv 0.23 0.020 0.500 2 2014 2015
dbSNP: rs1036477
rs1036477
5 0.882 0.040 15 48622729 intron variant A/G snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs12191786
rs12191786
4 0.851 0.120 6 22004398 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4774517
rs4774517
3 0.882 0.040 15 48467094 intron variant G/T snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs755251
rs755251
2 0.925 0.040 15 48519823 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs137854466
rs137854466
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs113358395
rs113358395
1 1.000 0.040 19 40714313 missense variant G/A;C snv 3.8E-03 3.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1343555503
rs1343555503
1 1.000 0.040 18 51058364 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140598
rs140598
5 0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02 0.010 1.000 1 1997 1997
dbSNP: rs1465567
rs1465567
3 0.882 0.040 5 38370435 missense variant T/C snv 0.20 0.25 0.010 1.000 1 2017 2017
dbSNP: rs191645600
rs191645600
1 1.000 0.040 9 136505728 missense variant G/T snv 5.8E-04 6.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
dbSNP: rs5516
rs5516
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.010 1.000 1 2016 2016
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs727503054
rs727503054
15 0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 0.700 0
dbSNP: rs900
rs900
6 0.882 0.040 1 218441563 3 prime UTR variant A/T snv 0.33 0.010 1.000 1 2014 2014