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: rs7752448
rs7752448
4 6 28333322 intron variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs10423138
rs10423138
1 19 58416935 synonymous variant T/A;C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs10016022
rs10016022
3 0.925 0.120 4 10445282 missense variant A/G;T snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs10938799
rs10938799
3 0.925 0.120 4 10441801 3 prime UTR variant G/A snv 0.21 0.700 1.000 1 2009 2009
dbSNP: rs12019277
rs12019277
3 0.925 0.120 4 10453370 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3217
rs3217
3 0.925 0.120 4 10443026 3 prime UTR variant C/T snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs4422413
rs4422413
3 0.925 0.120 4 10441760 3 prime UTR variant T/G snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs7674156
rs7674156
3 0.925 0.120 4 10451139 non coding transcript exon variant G/C snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs9394948
rs9394948
1 6 43367017 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs6930689
rs6930689
1 6 43325892 intron variant T/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs187171029
rs187171029
1 19 53096003 intron variant A/T snv 3.0E-03 0.700 1.000 1 2017 2017
dbSNP: rs7555340
rs7555340
3 0.925 0.120 1 35015950 intron variant T/C snv 6.2E-03 0.700 1.000 1 2015 2015
dbSNP: rs703978
rs703978
3 1.000 0.080 10 79184390 intron variant C/G;T snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs199592697
rs199592697
3 3 13854632 missense variant C/T snv 1.7E-04 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs699465
rs699465
1 3 52276426 intron variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs35258188
rs35258188
4 1.000 0.040 15 53705141 missense variant T/G snv 3.5E-03 1.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs10516200
rs10516200
3 0.925 0.120 4 10080532 intron variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10939710
rs10939710
3 0.925 0.120 4 10115177 intron variant T/C snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs11726271
rs11726271
3 0.925 0.120 4 10096568 non coding transcript exon variant G/A;C snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs11727087
rs11727087
3 0.925 0.120 4 10094396 intron variant C/T snv 0.35 0.700 1.000 1 2009 2009
dbSNP: rs11731597
rs11731597
3 0.925 0.120 4 10073861 upstream gene variant C/T snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs12498927
rs12498927
3 0.925 0.120 4 10113899 intron variant A/G;T snv 0.51 0.700 1.000 1 2009 2009
dbSNP: rs12509714
rs12509714
3 0.925 0.120 4 10105467 intron variant C/G snv 0.49 0.700 1.000 1 2009 2009
dbSNP: rs16868326
rs16868326
3 0.925 0.120 4 10100969 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs200251830
rs200251830
3 0.925 0.120 4 10073861 upstream gene variant -/AT delins 0.700 1.000 1 2009 2009