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: rs2074356
rs2074356
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.800 1.000 3 2011 2017
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.800 1.000 3 2013 2017
dbSNP: rs10849915
rs10849915
3 0.925 0.080 12 110895818 intron variant T/C snv 0.39 0.800 1.000 2 2011 2017
dbSNP: rs12229654
rs12229654
20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.800 1.000 2 2011 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.800 1.000 2 2013 2017
dbSNP: rs2072134
rs2072134
3 12 112971371 3 prime UTR variant G/A snv 3.7E-03 0.800 1.000 2 2011 2017
dbSNP: rs1049296
rs1049296
TF
4 0.882 0.120 3 133775510 missense variant C/T snv 0.16 0.14 0.800 1.000 1 2011 2011
dbSNP: rs1534166
rs1534166
2 3 133818223 intron variant A/G snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs1799899
rs1799899
TF
2 1.000 0.080 3 133756968 missense variant G/A snv 5.2E-02 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 1 2011 2011
dbSNP: rs2749097
rs2749097
1 1 63661797 downstream gene variant C/G snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.800 1.000 1 2011 2011
dbSNP: rs4758317
rs4758317
1 11 8229264 intron variant C/A snv 0.57 0.800 1.000 1 2013 2013
dbSNP: rs59677118
rs59677118
1 9 14441679 intron variant G/A snv 7.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs7310615
rs7310615
12 0.882 12 111427245 intron variant C/G snv 0.67 0.700 1.000 2 2018 2019
dbSNP: rs10051330
rs10051330
2 5 158392616 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10066168
rs10066168
2 5 157057207 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10092965
rs10092965
2 8 8515975 intergenic variant A/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs10127775
rs10127775
4 1 230160042 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10176901
rs10176901
2 2 168974151 intron variant G/A snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs10184428
rs10184428
5 2 164155317 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10249276
rs10249276
1 7 118938630 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10255839
rs10255839
6 7 27249498 intron variant G/A snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs10281955
rs10281955
1 7 118944637 intergenic variant G/A snv 0.86 0.700 1.000 1 2012 2012