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: rs10012
rs10012
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1001581
rs1001581
1 1.000 0.080 19 43561236 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1005165
rs1005165
1 1.000 0.080 19 45405792 intron variant C/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs10079250
rs10079250
7 0.827 0.120 5 150070569 missense variant T/C snv 9.9E-02 8.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1012477
rs1012477
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1022059218
rs1022059218
2 0.925 0.200 2 203936863 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1026411
rs1026411
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1032737355
rs1032737355
2 0.925 0.080 7 55170434 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1042489
rs1042489
5 0.851 0.160 17 78224125 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs1042852
rs1042852
1 1.000 0.080 3 105658671 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1046175
rs1046175
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1048977
rs1048977
CDA
2 1.000 0.080 1 20618562 synonymous variant C/T snv 0.31 0.34 0.010 1.000 1 2011 2011
dbSNP: rs1049434
rs1049434
2 0.925 0.120 1 112913924 missense variant A/T snv 0.59 0.66 0.010 1.000 1 2015 2015
dbSNP: rs1050171
rs1050171
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10503380
rs10503380
2 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1051753269
rs1051753269
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs10519097
rs10519097
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1056503
rs1056503
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057523347
rs1057523347
2 0.925 0.160 17 7673789 stop gained A/G;T snv 0.010 1.000 1 2011 2011