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: rs10017134
rs10017134
2 0.925 0.120 4 69591303 intron variant T/C snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1002076
rs1002076
2 0.925 0.120 1 10378834 3 prime UTR variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs1017134
rs1017134
2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10260419
rs10260419
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1057156
rs1057156
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs10788679
rs10788679
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs11175194
rs11175194
2 0.925 0.120 12 63871057 intron variant G/A snv 0.15 0.710 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs114972508
rs114972508
2 0.925 0.120 7 55020815 intron variant T/C snv 1.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs115344852
rs115344852
1 1.000 0.120 6 28518321 intron variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs11651755
rs11651755
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs11696662
rs11696662
2 0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs11782652
rs11782652
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.710 1.000 2 2013 2015
dbSNP: rs1192691
rs1192691
2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.710 1.000 1 2014 2014
dbSNP: rs12039431
rs12039431
1 1.000 0.120 1 37616450 intron variant G/A snv 0.24 0.21 0.700 1.000 1 2015 2015
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2010 2010