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: rs3118470
rs3118470
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.800 1.000 2 2010 2015
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.800 1.000 2 2010 2012
dbSNP: rs1024161
rs1024161
2 0.925 0.160 2 203857029 intergenic variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs10760706
rs10760706
1 1.000 0.040 9 99961410 intron variant C/T snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs1701704
rs1701704
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.800 1.000 1 2010 2010
dbSNP: rs694739
rs694739
9 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.800 1.000 1 2010 2010
dbSNP: rs7682241
rs7682241
1 1.000 0.040 4 122602720 regulatory region variant G/T snv 0.30 0.800 1.000 1 2010 2010
dbSNP: rs9479482
rs9479482
1 1.000 0.040 6 150036876 downstream gene variant T/C snv 0.36 0.800 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2006 2019
dbSNP: rs11224294
rs11224294
2 0.925 0.080 11 100578431 regulatory region variant T/C snv 9.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs12183587
rs12183587
1 1.000 0.040 6 150033472 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs12348691
rs12348691
2 0.925 0.120 9 97846400 intron variant G/A snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs1431704
rs1431704
1 1.000 0.040 18 39273770 intron variant T/C snv 7.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs17031716
rs17031716
1 1.000 0.040 1 113609225 intron variant C/A snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs17479692
rs17479692
1 1.000 0.040 10 89528702 intron variant T/G snv 9.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs2155219
rs2155219
14 0.732 0.280 11 76588150 upstream gene variant G/T snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs2216164
rs2216164
1 1.000 0.040 12 68140560 intron variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.700 1.000 1 2015 2015
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs2395157
rs2395157
5 0.827 0.240 6 32380368 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs247459
rs247459
1 1.000 0.040 5 134046765 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2666138
rs2666138
1 1.000 0.040 2 36104014 intergenic variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2847266
rs2847266
1 1.000 0.040 18 12773339 intron variant C/T snv 0.69 0.700 1.000 1 2015 2015
dbSNP: rs3099624
rs3099624
1 1.000 0.040 1 11436937 intergenic variant C/T snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs3099844
rs3099844
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2012 2012