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: rs287354
rs287354
1 13 68665820 intergenic variant A/G snv 0.61 0.700 1.000 1 2007 2007
dbSNP: rs287474
rs287474
1 13 68701828 intergenic variant T/A snv 0.58 0.700 1.000 1 2007 2007
dbSNP: rs4982795
rs4982795
1 14 23755826 downstream gene variant T/C snv 0.38 0.700 1.000 1 2007 2007
dbSNP: rs524802
rs524802
1 19 36956045 intron variant G/A snv 0.36 0.700 1.000 1 2007 2007
dbSNP: rs7231460
rs7231460
1 18 31252224 intergenic variant T/C snv 0.42 0.700 1.000 1 2007 2007
dbSNP: rs966376
rs966376
1 18 31252875 intergenic variant T/C snv 0.41 0.700 1.000 1 2007 2007
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.800 1.000 8 2009 2018
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.800 1.000 8 2009 2019
dbSNP: rs12670798
rs12670798
5 1.000 0.040 7 21567734 intron variant T/C snv 0.26 0.800 1.000 5 2009 2018
dbSNP: rs1532085
rs1532085
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.800 1.000 5 2009 2018
dbSNP: rs10889353
rs10889353
5 1 62652525 intron variant A/C;T snv 0.800 1.000 4 2009 2019
dbSNP: rs10903129
rs10903129
4 1 25442446 intron variant A/G snv 0.58 0.800 1.000 3 2009 2018
dbSNP: rs174570
rs174570
11 0.882 0.200 11 61829740 intron variant C/T snv 0.15 0.800 1.000 3 2009 2019
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 3 2009 2013
dbSNP: rs2228671
rs2228671
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 3 2009 2019
dbSNP: rs2304130
rs2304130
5 1.000 0.080 19 19678719 splice region variant A/G snv 0.10 0.12 0.800 1.000 3 2009 2019
dbSNP: rs3846662
rs3846662
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.800 1.000 3 2009 2019
dbSNP: rs4939883
rs4939883
5 1.000 0.040 18 49640844 TF binding site variant T/C;G snv 0.700 1.000 3 2009 2018
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.800 1.000 3 2009 2019
dbSNP: rs12272004
rs12272004
5 1.000 0.040 11 116733008 TF binding site variant C/A snv 9.8E-02 0.800 1.000 1 2009 2009
dbSNP: rs6756629
rs6756629
5 0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02 0.800 1.000 1 2009 2009
dbSNP: rs6987702
rs6987702
1 8 125492484 intron variant T/C snv 0.43 0.800 1.000 1 2009 2009
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 10 2010 2019
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.800 1.000 9 2010 2019
dbSNP: rs12916
rs12916
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.800 1.000 8 2010 2019