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: 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: rs56156506
rs56156506
1 1.000 0.040 X 38140399 intron variant A/T snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs62090893
rs62090893
1 1.000 0.040 18 75338379 intergenic variant G/A snv 9.7E-02 0.800 1.000 1 2013 2013
dbSNP: rs9839776
rs9839776
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.800 1.000 1 2014 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: rs10747478
rs10747478
1 1.000 0.040 1 96435899 intergenic variant T/A;C;G snv 0.700 1.000 1 2019 2019
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: 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: rs200312312
rs200312312
1 1.000 0.040 5 104666645 intron variant T/C snv 0.16 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: rs2287348
rs2287348
1 1.000 0.040 2 53812676 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs370838138
rs370838138
1 1.000 0.040 5 25081736 intergenic variant G/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs4622308
rs4622308
3 0.925 0.160 12 56075401 upstream gene variant C/T snv 0.700 1.000 1 2017 2017
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: rs75063949
rs75063949
2 0.925 0.040 6 25590813 intron variant C/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs9821797
rs9821797
1 1.000 0.040 3 48680820 intron variant T/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs9874207
rs9874207
1 1.000 0.040 3 70970599 non coding transcript exon variant T/C snv 0.64 0.700 1.000 1 2019 2019
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