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: rs142450006
rs142450006
4 0.851 0.040 20 45986353 regulatory region variant TTCT/-;TTCTTTCT delins 2.0E-02 0.710 1.000 2 2016 2018
dbSNP: rs1789110
rs1789110
2 0.925 0.040 18 77147088 regulatory region variant C/A snv 0.63 0.710 1.000 2 2012 2014
dbSNP: rs2842992
rs2842992
2 0.925 0.040 6 159650127 intron variant G/A snv 0.73 0.710 1.000 2 2012 2014
dbSNP: rs10781182
rs10781182
4 0.851 0.040 9 74002804 intergenic variant T/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs114092250
rs114092250
4 0.851 0.040 5 35494346 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs148553336
rs148553336
4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs1626340
rs1626340
5 0.827 0.120 9 99161090 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs201459901
rs201459901
4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs28368872
rs28368872
3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs61818925
rs61818925
4 0.851 0.040 1 196846320 upstream gene variant T/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs722782
rs722782
1 1.000 0.040 8 566479 intergenic variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs72802342
rs72802342
5 0.851 0.040 16 75200974 downstream gene variant C/A snv 6.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs61941274
rs61941274
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62247658
rs62247658
4 0.851 0.040 3 64729479 intron variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs2043085
rs2043085
9 0.827 0.080 15 58388755 intron variant T/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2016 2016
dbSNP: rs12357257
rs12357257
4 0.851 0.040 10 24710664 intron variant G/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.800 1.000 14 2008 2016
dbSNP: rs3750846
rs3750846
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs9564692
rs9564692
4 0.851 0.040 13 31247103 splice region variant C/T snv 0.40 0.36 0.700 1.000 1 2016 2016
dbSNP: rs1800995
rs1800995
5 0.851 0.080 11 61955906 missense variant GC/AA mnv 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.010 1.000 1 2001 2001
dbSNP: rs281865275
rs281865275
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs9332739
rs9332739
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.710 1.000 2 2012 2012