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: rs7947224
rs7947224
1 1.000 0.040 11 100002678 intron variant T/C snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs752298108
rs752298108
1 1.000 0.040 3 10286806 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2007 2007
dbSNP: rs200312312
rs200312312
1 1.000 0.040 5 104666645 intron variant T/C snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2009 2009
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs6589488
rs6589488
1 1.000 0.040 11 115226236 intron variant A/T snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs4825476
rs4825476
2 0.925 0.040 X 123307628 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs117957029
rs117957029
1 1.000 0.040 12 127200688 intron variant T/C snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs2008387
rs2008387
1 1.000 0.040 10 129650500 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs145241704
rs145241704
1 1.000 0.040 7 141805287 upstream gene variant T/G snv 7.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs1285957
rs1285957
1 1.000 0.040 7 141889478 downstream gene variant T/C snv 0.86 0.700 1.000 1 2013 2013
dbSNP: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs10052957
rs10052957
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs726281
rs726281
1 1.000 0.040 6 151981443 intron variant G/A snv 0.56 0.020 1.000 2 2010 2014
dbSNP: rs3798577
rs3798577
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2295193
rs2295193
1 1.000 0.040 6 152131959 intron variant G/A;C snv 0.030 0.667 3 2010 2014
dbSNP: rs929626
rs929626
2 0.925 0.120 5 158883623 intron variant A/G snv 0.40 0.710 1.000 1 2017 2017
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: rs9839776
rs9839776
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2008 2008