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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.060 0.667 6 2001 2017
dbSNP: rs2295193
rs2295193
1 1.000 0.040 6 152131959 intron variant G/A;C snv 0.030 0.667 3 2010 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.875 8 2004 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2004 2016
dbSNP: rs11174202
rs11174202
2 0.925 0.040 12 61858476 intron variant A/G snv 0.49 0.700 1.000 2 2017 2018
dbSNP: rs1473473
rs1473473
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.020 1.000 2 2011 2013
dbSNP: rs5030980
rs5030980
4 0.925 0.120 16 67483042 missense variant C/T snv 3.2E-02 2.9E-02 0.020 1.000 2 2005 2007
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2018 2019
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: 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: rs10070190
rs10070190
2 0.925 0.040 5 26866262 intergenic variant G/A snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs10096097
rs10096097
1 1.000 0.040 8 30169582 intron variant G/A snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs1042571
rs1042571
3 0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2009 2009
dbSNP: rs10747478
rs10747478
1 1.000 0.040 1 96435899 intergenic variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11179027
rs11179027
1 1.000 0.040 12 71983532 intron variant G/C snv 0.26 0.010 1.000 1 2013 2013
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: rs11783752
rs11783752
2 0.925 0.040 8 20192013 intergenic 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: rs12504244
rs12504244
2 0.925 0.040 4 54619021 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
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: rs1298806501
rs1298806501
1 1.000 0.040 14 64227600 missense variant G/A snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs13100344
rs13100344
1 1.000 0.040 3 94886263 intergenic variant T/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs13125782
rs13125782
1 1.000 0.040 4 7426539 intron variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs13338499
rs13338499
2 0.925 0.040 16 67486220 intron variant A/G;T snv 0.010 1.000 1 2014 2014