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: rs13001243
rs13001243
3 0.882 0.040 2 234306004 regulatory region variant G/A snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs201048567
rs201048567
3 0.882 0.040 7 125615031 intergenic variant CA/- delins 1.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs221774
rs221774
4 0.851 0.080 7 100701361 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2997119
rs2997119
3 0.882 0.040 13 55819766 intergenic variant A/G snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs4470690
rs4470690
2 0.925 0.040 4 187800358 intergenic variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs506597
rs506597
4 0.882 0.040 7 100715797 upstream gene variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs56196471
rs56196471
3 0.882 0.040 4 178642661 intergenic variant G/A snv 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs62482377
rs62482377
3 0.882 0.040 7 156250946 intergenic variant G/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs75583333
rs75583333
2 0.925 0.040 5 160168028 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs7766730
rs7766730
3 0.882 0.040 6 65987110 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs77867520
rs77867520
3 0.882 0.040 4 11186225 intergenic variant C/T snv 7.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs79323383
rs79323383
2 0.925 0.040 8 120839185 intergenic variant T/G snv 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs9354352
rs9354352
3 0.882 0.040 6 65986379 intergenic variant T/C snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs56031956
rs56031956
3 0.882 0.040 9 108863349 missense variant C/G snv 2.3E-02 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs146330533
rs146330533
3 0.882 0.040 1 17669971 intron variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs11125080
rs11125080
3 0.882 0.040 2 46505266 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2009 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2009 2019
dbSNP: rs4800149
rs4800149
3 0.882 0.040 18 23164290 intron variant C/A snv 0.80 0.700 1.000 1 2017 2017
dbSNP: rs149740908
rs149740908
2 0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs12052005
rs12052005
3 0.882 0.040 18 68832311 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs34486957
rs34486957
3 0.882 0.040 14 59578879 upstream gene variant C/T snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs2067477
rs2067477
3 0.882 0.080 11 62910834 synonymous variant G/T snv 0.11 8.7E-02 0.010 1.000 1 2015 2015