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: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2012 2012
dbSNP: rs74566133
rs74566133
2 8 133766099 regulatory region variant C/T snv 2.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 < 0.001 1 2010 2010
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.030 1.000 3 2010 2016
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs550659379
rs550659379
5 0.882 0.160 5 143399780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs375382379
rs375382379
5 0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs752834812
rs752834812
5 0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs772651364
rs772651364
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6189
rs6189
6 0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2014 2014
dbSNP: rs3798577
rs3798577
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.020 1.000 2 2010 2014
dbSNP: rs495225
rs495225
4 0.882 0.040 3 172448243 synonymous variant G/A;C;T snv 0.66 0.010 1.000 1 2006 2006
dbSNP: rs1805576
rs1805576
3 1.000 0.040 3 180949777 intron variant C/G;T snv 0.24 0.710 1.000 1 2016 2016
dbSNP: rs4854912
rs4854912
3 1.000 0.040 3 181063312 intron variant C/T snv 0.15 0.710 1.000 1 2016 2016
dbSNP: rs13086738
rs13086738
3 1.000 0.040 3 181080939 intron variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2012 2018
dbSNP: rs12475512
rs12475512
2 2 231433365 downstream gene variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2010 2010
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2010 2010
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs61754648
rs61754648
1 2 239090026 missense variant C/T snv 1.4E-03 1.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs7322916
rs7322916
2 13 25433839 intron variant G/A;C snv 0.800 1.000 1 2013 2013