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: rs2075633
rs2075633
3 1.000 0.080 4 99317841 non coding transcript exon variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs2133896
rs2133896
5 0.925 0.080 12 99455122 intron variant G/T snv 7.6E-02 0.710 1.000 1 2019 2019
dbSNP: rs2290045
rs2290045
1 1.000 0.080 11 22363424 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs3219151
rs3219151
14 0.752 0.160 5 161701908 3 prime UTR variant C/T snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4715221
rs4715221
3 1.000 0.080 6 51495005 regulatory region variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4936277
rs4936277
3 1.000 0.080 11 113561238 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs540606
rs540606
3 1.000 0.080 2 44911368 intergenic variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs570436
rs570436
3 1.000 0.080 2 44915534 intergenic variant C/T snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs5860563
rs5860563
3 1.000 0.080 4 99126006 intron variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs61826952
rs61826952
1 1.000 0.080 1 174668799 intron variant A/G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs61902812
rs61902812
3 1.000 0.080 11 113503698 intergenic variant C/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs72716801
rs72716801
3 1.000 0.080 8 127636481 non coding transcript exon variant G/T snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs72900220
rs72900220
3 1.000 0.080 4 98671846 intergenic variant A/G snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs7597960
rs7597960
1 1.000 0.080 2 122667075 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7906104
rs7906104
3 1.000 0.080 10 108737343 intron variant C/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs9378160
rs9378160
3 1.000 0.080 6 31500215 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.900 10 2005 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2005 2018
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.050 1.000 5 2012 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2018
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.030 1.000 3 2010 2018
dbSNP: rs1997794
rs1997794
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.020 1.000 2 2013 2018
dbSNP: rs29220
rs29220
1 1.000 0.080 6 29621889 intron variant C/G snv 0.31 0.020 1.000 2 2016 2018
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2005 2018
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018