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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1044165
rs1044165
1 1.000 0.080 X 66021884 3 prime UTR variant G/A snv 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs104895080
rs104895080
3 0.882 0.160 16 3254380 missense variant C/G;T snv 6.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs104895094
rs104895094
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs104895271
rs104895271
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs10492503
rs10492503
1 1.000 0.080 13 92232844 intron variant T/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 < 0.001 1 2012 2012
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs1052553
rs1052553
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 < 0.001 1 2013 2013
dbSNP: rs1064395
rs1064395
3 0.882 0.120 19 19250926 3 prime UTR variant G/A snv 0.24 0.010 1.000 1 2020 2020
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2011 2011
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs10807344
rs10807344
2 0.925 0.120 6 46657898 intron variant C/T snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs10877013
rs10877013
1 1.000 0.080 12 57771302 intron variant C/T snv 0.38 0.32 0.010 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 < 0.001 1 2016 2016
dbSNP: rs10984447
rs10984447
1 1.000 0.080 9 119222275 intron variant A/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs11039149
rs11039149
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs11074956
rs11074956
2 0.925 0.160 16 11243864 downstream gene variant G/T snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs11086996
rs11086996
1 1.000 0.080 20 46095024 upstream gene variant C/T snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs1109670
rs1109670
1 1.000 0.080 2 9109909 upstream gene variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.010 1.000 1 2013 2013
dbSNP: rs11256593
rs11256593
1 1.000 0.080 10 6075359 upstream gene variant C/T snv 0.40 0.010 1.000 1 2019 2019