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: rs4240157
rs4240157
4 0.925 0.080 X 15568841 intron variant C/T snv 0.020 1.000 2 2018 2019
dbSNP: rs4244285
rs4244285
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.020 1.000 2 2012 2017
dbSNP: rs4646188
rs4646188
4 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 0.020 1.000 2 2018 2019
dbSNP: rs4830542
rs4830542
3 0.925 0.080 X 15558483 downstream gene variant C/G;T snv 0.020 1.000 2 2018 2019
dbSNP: rs5182
rs5182
16 0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 0.020 0.500 2 1994 2018
dbSNP: rs5194
rs5194
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 1.000 2 2017 2019
dbSNP: rs5351
rs5351
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.020 1.000 2 2007 2017
dbSNP: rs5355
rs5355
14 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 0.020 1.000 2 2012 2018
dbSNP: rs5516
rs5516
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.020 1.000 2 2007 2011
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2001 2007
dbSNP: rs7119375
rs7119375
2 1.000 0.040 11 57238490 upstream gene variant A/G;T snv 0.020 1.000 2 2010 2016
dbSNP: rs758801521
rs758801521
4 0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 0.500 2 2004 2014
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2008 2008
dbSNP: rs10199956
rs10199956
1 1.000 0.040 2 237907946 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1021737
rs1021737
CTH
2 0.925 0.120 1 70439117 missense variant G/T snv 0.28 0.24 0.010 < 0.001 1 2008 2008
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1047047
rs1047047
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1047303
rs1047303
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1048829
rs1048829
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs1065297
rs1065297
3 0.925 0.040 10 44370528 3 prime UTR variant A/G snv 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1065852
rs1065852
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2015 2015