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: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2018 2019
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4535211
rs4535211
1 1.000 0.080 3 17031505 intron variant A/G snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.020 1.000 2 2012 2017
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs79877597
rs79877597
2 0.925 0.080 14 23375770 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs115645848
rs115645848
1 1.000 0.080 6 29622938 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1610601
rs1610601
1 1.000 0.080 6 29732406 intron variant C/A;T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs115529844
rs115529844
1 1.000 0.080 6 29850244 non coding transcript exon variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs115928623
rs115928623
1 1.000 0.080 6 29971371 intron variant A/T snv 0.700 1.000 1 2019 2019
dbSNP: rs115618145
rs115618145
1 1.000 0.080 6 30102498 upstream gene variant C/G snv 0.700 1.000 1 2019 2019
dbSNP: rs114265779
rs114265779
1 1.000 0.080 6 30213844 upstream gene variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs116199901
rs116199901
1 1.000 0.080 6 30315875 intron variant G/C snv 0.700 1.000 1 2019 2019
dbSNP: rs115429849
rs115429849
1 1.000 0.080 6 30416827 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs114757170
rs114757170
1 1.000 0.080 6 30618254 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs28780111
rs28780111
1 1.000 0.080 6 30752534 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs149997688
rs149997688
1 1.000 0.080 6 30893833 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs114383947
rs114383947
1 1.000 0.080 6 31010940 intron variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs116805908
rs116805908
1 1.000 0.080 6 31173746 non coding transcript exon variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs13191343
rs13191343
1 1.000 0.080 6 31273332 intron variant C/G;T snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs12189871
rs12189871
2 0.925 0.080 6 31284147 intron variant C/T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs12191877
rs12191877
7 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs115429782
rs115429782
1 1.000 0.080 6 31297975 intron variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs114598684
rs114598684
1 1.000 0.080 6 31413173 intron variant C/T snv 0.700 1.000 1 2019 2019