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: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.810 1.000 2 2012 2016
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.800 1.000 3 2012 2017
dbSNP: rs1077773
rs1077773
2 1.000 0.040 7 17403055 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10781499
rs10781499
3 0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38 0.800 1.000 2 2012 2017
dbSNP: rs10797432
rs10797432
2 1.000 0.040 1 2569899 downstream gene variant C/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs10798069
rs10798069
2 1.000 0.040 1 186906327 intron variant G/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10800309
rs10800309
3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs10896794
rs10896794
1 11 58571651 intron variant T/C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs10951982
rs10951982
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.020 1.000 2 2011 2015
dbSNP: rs10956252
rs10956252
1 8 125523895 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11010067
rs11010067
3 0.925 0.040 10 35006503 downstream gene variant C/G snv 0.37 0.800 1.000 2 2012 2015
dbSNP: rs11064881
rs11064881
CIT
3 1.000 0.040 12 119709120 intron variant G/A snv 5.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs111033623
rs111033623
3 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs111456533
rs111456533
2 1.000 0.040 10 124750812 intron variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs11150589
rs11150589
2 1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11168249
rs11168249
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.800 1.000 1 2012 2012
dbSNP: rs11187157
rs11187157
1 10 92742487 TF binding site variant T/C snv 0.40 0.700 1.000 1 2015 2015
dbSNP: rs11190140
rs11190140
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs11195128
rs11195128
2 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 22 2006 2020
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11229555
rs11229555
7 0.827 0.120 11 58641214 intron variant G/T snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.800 1.000 2 2012 2015