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: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 < 0.001 1 2019 2019
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs17860508
rs17860508
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2009 2009
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs1884444
rs1884444
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2234711
rs2234711
6 0.827 0.080 6 137219383 5 prime UTR variant A/G snv 0.43 0.010 1.000 1 2009 2009
dbSNP: rs3091307
rs3091307
6 0.925 0.160 5 132653444 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs34383331
rs34383331
3 0.882 0.040 22 23895892 non coding transcript exon variant T/A snv 0.19 0.18 0.010 1.000 1 2013 2013
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2019 2019
dbSNP: rs5030868
rs5030868
9 0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs7246355
rs7246355
1 1.000 0.040 19 50722987 upstream gene variant C/T snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2017 2017
dbSNP: rs76980269
rs76980269
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs7719175
rs7719175
2 0.925 0.120 5 132650771 intron variant T/G snv 4.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs776022790
rs776022790
2 0.925 0.040 5 39202836 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2016 2016
dbSNP: rs867186
rs867186
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2014 2014