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: rs1051730
rs1051730
19 0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26 0.900 1.000 16 2008 2013
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.890 1.000 12 2010 2015
dbSNP: rs8034191
rs8034191
14 0.744 0.179 15 78513681 intron variant T/C snp 0.27 0.850 1.000 11 2008 2013
dbSNP: rs401681
rs401681
22 0.679 0.464 5 1321972 intron variant C/T snp 0.48 0.840 1.000 6 2008 2014
dbSNP: rs121913530
rs121913530
39 0.615 0.321 12 25245351 missense variant C/A,G,T snp 0.830 1.000 7 1984 2017
dbSNP: rs3117582
rs3117582
14 0.715 0.321 6 31652743 intron variant T/G snp 7.9E-02 0.830 1.000 6 2008 2016
dbSNP: rs11571833
rs11571833
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.830 0.667 5 2014 2017
dbSNP: rs4488809
rs4488809
4 0.846 0.071 3 189638472 intron variant T/C snp 0.46 0.820 1.000 4 2011 2014
dbSNP: rs17879961
rs17879961
33 0.615 0.321 22 28725099 missense variant A/C,G snp 4.1E-03 1.1E-02 0.820 1.000 3 2008 2014
dbSNP: rs8042374
rs8042374
10 0.784 0.107 15 78615690 intron variant A/G snp 0.29 0.810 1.000 4 2008 2013
dbSNP: rs4975616
rs4975616
8 0.801 0.214 5 1315545 regulatory region variant G/A snp 0.51 0.810 1.000 2 2009 2010
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.800 1.000 14 2003 2015
dbSNP: rs121913351
rs121913351
11 0.744 0.214 7 140781611 missense variant C/A,G,T snp 4.0E-06 0.800 8 2002 2014
dbSNP: rs2187668
rs2187668
15 0.724 0.393 6 32638107 intron variant C/T snp 0.800 3 2009 2017
dbSNP: rs8321
rs8321
13 0.734 0.250 6 30064745 3 prime UTR variant A/C snp 5.4E-02 6.5E-02 0.800 3 2009 2017
dbSNP: rs9262143
rs9262143
4 0.846 0.214 6 30685004 missense variant C/G,T snp 4.1E-06; 6.1E-02 3.2E-05; 7.4E-02 0.800 3 2009 2017
dbSNP: rs2233956
rs2233956
4 0.878 0.250 6 31113428 intergenic variant T/C snp 0.12 0.800 2 2013 2017
dbSNP: rs56084662
rs56084662
FRY
10 0.744 0.250 13 32295727 3 prime UTR variant G/A snp 2.9E-03 0.800 2 2014 2017
dbSNP: rs10849605
rs10849605
3 0.878 0.071 12 955272 intron variant T/C snp 0.48 0.800 1 2013 2013
dbSNP: rs121909071
rs121909071
4 0.846 0.071 11 2918030 missense variant C/T snp 0.800 1 1998 1998
dbSNP: rs2285947
rs2285947
3 0.878 0.107 7 21544470 intron variant G/A snp 0.44 0.800 1 2013 2013
dbSNP: rs2395185
rs2395185
12 0.756 0.321 6 32465390 intron variant G/T snp 0.27 0.800 1 2013 2013
dbSNP: rs2494938
rs2494938
3 0.878 0.107 6 40568389 intron variant G/A snp 0.50 0.800 1 2013 2013
dbSNP: rs36600
rs36600
1 1.000 0.071 22 29941597 intron variant T/C snp 0.79 0.800 1 2011 2011
dbSNP: rs7086803
rs7086803
1 1.000 0.071 10 112738717 intron variant G/A snp 0.19 0.800 1 2013 2013