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: rs1196220479
rs1196220479
4 0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs751857027
rs751857027
2 0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs138556334
rs138556334
1 1.000 0.120 2 120968809 missense variant C/T snv 3.6E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2009 2018
dbSNP: rs1210653597
rs1210653597
2 0.925 0.120 9 21968756 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs786202601
rs786202601
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs121908707
rs121908707
3 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs531398630
rs531398630
3 0.882 0.160 22 28695858 missense variant G/A snv 4.8E-04 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 6 1999 2017
dbSNP: rs137853007
rs137853007
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.710 1.000 4 2001 2012
dbSNP: rs372043866
rs372043866
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs2043556
rs2043556
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2020 2020
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2014 2014
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2011 2016
dbSNP: rs1555523630
rs1555523630
1 1.000 0.120 17 7668202 intron variant -/C delins 0.700 0
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs587781664
rs587781664
2 1.000 0.120 17 7669692 splice acceptor variant T/C snv 0.700 1.000 3 2010 2015
dbSNP: rs766786605
rs766786605
2 1.000 0.120 17 7670643 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs755394212
rs755394212
1 1.000 0.120 17 7670649 stop gained G/A;T snv 2.0E-05 0.700 1.000 4 2010 2015
dbSNP: rs1567541951
rs1567541951
1 1.000 0.120 17 7670658 stop gained TGAGTTCCA/C delins 0.700 0
dbSNP: rs397516434
rs397516434
3 1.000 0.120 17 7670669 missense variant G/A;T snv 0.700 1.000 2 2016 2016
dbSNP: rs121912662
rs121912662
2 0.925 0.120 17 7670678 missense variant A/G snv 0.800 1.000 21 1990 2017