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: rs17789218
rs17789218
3 6 100152221 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs17883880
rs17883880
4 10 100230590 intron variant T/A snv 1.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs7904983
rs7904983
1 10 100296259 stop gained G/A;C snv 1.4E-02; 4.1E-06 0.700 1.000 1 2012 2012
dbSNP: rs7909153
rs7909153
1 10 100297033 missense variant G/A snv 1.3E-02 5.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs8071787
rs8071787
5 17 10058819 intron variant T/C snv 4.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs3783599
rs3783599
1 1 100718331 upstream gene variant C/T snv 1.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs3917056
rs3917056
1 1 100730346 intron variant G/C snv 2.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs35404864
rs35404864
1 X 100850151 missense variant C/T snv 7.0E-03 2.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs6542999
rs6542999
1 2 100937295 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10185855
rs10185855
4 2 101025798 intron variant A/G snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs11571151
rs11571151
6 11 101127486 missense variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2227700
rs2227700
1 7 101138800 3 prime UTR variant T/C snv 1.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs11247287
rs11247287
1 15 101365328 intron variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs17199964
rs17199964
5 4 101786634 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1398607
rs1398607
2 1.000 0.080 3 102036894 TF binding site variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17779355
rs17779355
1 10 102168617 downstream gene variant G/A snv 4.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs13114738
rs13114738
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs5742683
rs5742683
1 12 102419939 intron variant A/G snv 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs5742663
rs5742663
1 12 102430212 intron variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs7300373
rs7300373
1 12 102438008 intron variant T/G snv 1.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs13401597
rs13401597
1 2 102444358 intron variant C/G snv 1.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs5742626
rs5742626
3 12 102464131 intron variant T/C snv 2.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs5742617
rs5742617
1 12 102476127 intron variant C/T snv 8.7E-03 0.700 1.000 1 2012 2012
dbSNP: rs2075847
rs2075847
3 11 102799093 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs5030383
rs5030383
1 19 10286167 3 prime UTR variant C/A;T snv 0.700 1.000 1 2012 2012