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: rs1024610
rs1024610
3 0.882 0.200 17 34253212 upstream gene variant T/A snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs11126184
rs11126184
2 0.925 0.080 2 68425042 intergenic variant C/A snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs111942351
rs111942351
1 1.000 0.080 5 143693985 intron variant A/G snv 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11610782
rs11610782
1 1.000 0.080 12 125711743 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs116133558
rs116133558
1 1.000 0.080 1 203747715 downstream gene variant C/T snv 2.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs116791765
rs116791765
1 1.000 0.080 11 94347083 intergenic variant T/G snv 2.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs140743827
rs140743827
1 1.000 0.080 1 165016519 intergenic variant G/A snv 2.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs2687855
rs2687855
1 1.000 0.080 3 145768292 regulatory region variant G/A snv 0.71 0.010 1.000 1 2013 2013
dbSNP: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.010 1.000 1 2019 2019
dbSNP: rs72699765
rs72699765
1 1.000 0.080 15 25584050 downstream gene variant G/A snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs75108997
rs75108997
1 1.000 0.080 1 233818485 intergenic variant G/A snv 1.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs999944
rs999944
1 1.000 0.080 2 64822719 intergenic variant A/G snv 0.83 0.700 1.000 1 2016 2016
dbSNP: rs1063537
rs1063537
6 0.807 0.320 3 186856286 3 prime UTR variant C/T snv 9.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2082940
rs2082940
10 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3774262
rs3774262
5 0.851 0.200 3 186854025 intron variant G/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs4686803
rs4686803
1 1.000 0.080 3 186856550 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs1554699491
rs1554699491
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
dbSNP: rs780631499
rs780631499
23 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2008 2008
dbSNP: rs35329661
rs35329661
1 1.000 0.080 11 75263946 3 prime UTR variant C/T snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs1563183492
rs1563183492
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016