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: rs1906953
rs1906953
2 0.923 0.036 6 34068669 intron variant C/T snp 0.25 0.820 1.000 3 2013 2017
dbSNP: rs17206779
rs17206779
1 1.000 0.036 5 65151950 splice region variant C/G,T snp 0.48 0.44 0.810 1.000 2 2013 2015
dbSNP: rs7591996
rs7591996
1 1.000 0.036 2 6321289 intron variant A/C snp 0.57 0.810 1.000 2 2013 2015
dbSNP: rs137853008
rs137853008
1 1.000 0.036 22 28734673 missense variant C/A snp 0.800 1 2002 2002
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.720 1.000 3 2007 2015
dbSNP: rs7034162
rs7034162
3 0.923 0.036 9 14190288 intron variant A/T snp 0.81 0.710 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.700 2 2014 2015
dbSNP: rs17883862
rs17883862
3 0.878 0.071 22 28734468 missense variant G/A,C,T snp 9.1E-04; 1.2E-05 2.0E-03 0.700 2 2002 2005
dbSNP: rs28934573
rs28934573
28 0.652 0.464 17 7674241 missense variant G/A,C,T snp 4.0E-06 0.700 2 1992 1993
dbSNP: rs10208273
rs10208273
1 1.000 0.036 2 6383862 intergenic variant A/G snp 0.29 0.700 1 2013 2013
dbSNP: rs55933544
rs55933544
1 1.000 0.036 9 6534080 missense variant C/T snp 0.20 0.700 1 2018 2018
dbSNP: rs587782401
rs587782401
5 0.846 0.179 22 28734401 splice donor variant A/G,T snp 4.0E-06; 6.8E-05 3.8E-04 0.700 1 2015 2015
dbSNP: rs863223301
rs863223301
2 0.923 0.071 17 7675130 frameshift variant G/GCCATGGC in-del 0.700 1 2002 2002
dbSNP: rs730882029
rs730882029
3 0.923 0.107 17 7670685 stop gained G/A snp 0.700 0
dbSNP: rs763098116
rs763098116
2 0.923 0.036 17 7673790 missense variant C/A,T snp 4.0E-06 0.700 0
dbSNP: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.020 1.000 2 2015 2015
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.020 0.500 2 2013 2015
dbSNP: rs1800541
rs1800541
2 0.923 0.036 6 12288986 intergenic variant T/G snp 0.25 0.020 1.000 2 2014 2014
dbSNP: rs2070699
rs2070699
2 0.923 0.036 6 12292539 intron variant G/C,T snp 0.45 0.38 0.020 0.500 2 2014 2014
dbSNP: rs231775
rs231775
38 0.608 0.536 2 203867991 missense variant A/G,T snp 0.42; 4.0E-06 0.42 0.020 1.000 2 2012 2015
dbSNP: rs454006
rs454006
2 0.923 0.036 19 53886867 intron variant T/C snp 0.34 0.020 1.000 2 2015 2015
dbSNP: rs1005464
rs1005464
2 0.923 0.036 20 6775501 intron variant G/A snp 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.010 < 0.001 1 2007 2007
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1056629
rs1056629
5 0.846 0.107 16 82148499 3 prime UTR variant T/C snp 0.14 0.010 1.000 1 2017 2017