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: rs10163267
rs10163267
1 1.000 0.120 16 83940313 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1016343
rs1016343
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs10411210
rs10411210
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2013 2017
dbSNP: rs1048369
rs1048369
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs10496040
rs10496040
1 1.000 0.120 2 55080510 5 prime UTR variant C/A snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2010 2010
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.700 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs1059449
rs1059449
1 1.000 0.120 6 29942921 missense variant G/A snv 6.1E-02 9.0E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.700 1.000 1 2010 2010
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs10896449
rs10896449
7 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.700 1.000 1 2010 2010
dbSNP: rs10898880
rs10898880
3 0.925 0.160 11 72814066 upstream gene variant C/A snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs10934853
rs10934853
3 0.882 0.160 3 128319530 intron variant C/A snv 0.43 0.700 1.000 1 2010 2010
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs11081899
rs11081899
4 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11083846
rs11083846
3 0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16 0.700 1.000 1 2010 2010
dbSNP: rs11155133
rs11155133
2 0.925 0.200 6 140848688 intron variant A/G snv 8.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs11158728
rs11158728
1 1.000 0.120 14 68295488 intron variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11169571
rs11169571
4 0.851 0.200 12 50819982 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2019 2019