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: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 11 2011 2020
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1415342243
rs1415342243
4 0.851 0.040 6 26225549 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs751859698
rs751859698
2 0.925 0.040 1 75898031 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs760090729
rs760090729
4 0.851 0.040 6 27810468 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs866960721
rs866960721
4 0.851 0.040 6 26196856 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2013 2018
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.040 1.000 4 2015 2020
dbSNP: rs1412829
rs1412829
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.010 1.000 1 2010 2010