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: rs10023113
rs10023113
1 1.000 0.080 4 113625548 intron variant A/G snv 0.18 0.710 1.000 1 2015 2015
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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2006 2018
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: rs10429489
rs10429489
2 0.925 0.080 9 21787522 intergenic variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 1.000 6 2004 2014
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: rs1047768
rs1047768
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.020 1.000 2 2013 2014
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 11 2004 2012
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: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.040 1.000 4 2005 2014
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