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: rs297941
rs297941
1 1.000 0.040 12 49925303 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs4401971
rs4401971
1 1.000 0.040 9 11890045 intron variant A/C;G;T snv 0.800 1.000 1 2015 2015
dbSNP: rs11149058
rs11149058
2 0.925 0.120 13 76978136 downstream gene variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11174202
rs11174202
2 0.925 0.040 12 61858476 intron variant A/G snv 0.49 0.700 1.000 1 2018 2018
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: rs12536521
rs12536521
1 1.000 0.040 7 89349373 intergenic variant T/A snv 4.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs12635725
rs12635725
1 1.000 0.040 3 1895465 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1755715
rs1755715
1 1.000 0.040 14 59440374 intron variant A/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs2364841
rs2364841
1 1.000 0.040 14 77817693 intron variant A/G snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs28696717
rs28696717
1 1.000 0.040 1 153493087 intergenic variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs3747767
rs3747767
2 1.000 0.040 6 79547564 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs4271390
rs4271390
2 0.925 0.120 11 119655426 intron variant T/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs4785741
rs4785741
2 1.000 0.040 16 89939045 downstream gene variant T/C snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs4988462
rs4988462
2 0.925 0.120 3 87264203 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs6109227
rs6109227
1 1.000 0.040 20 12018497 intergenic variant A/T snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131293
rs6131293
1 1.000 0.040 20 12014779 intergenic variant A/G snv 0.79 0.700 1.000 1 2013 2013
dbSNP: rs6131295
rs6131295
1 1.000 0.040 20 12015619 regulatory region variant G/A;C snv 0.700 1.000 1 2013 2013
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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.733 15 2006 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.714 14 2006 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.090 0.778 9 1999 2016
dbSNP: rs301430
rs301430
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.060 1.000 6 2007 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.060 0.833 6 2007 2018
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.600 5 2007 2018
dbSNP: rs301443
rs301443
1 1.000 0.040 9 4594919 intron variant C/G snv 0.72 0.050 0.800 5 2010 2019