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: rs10420252
rs10420252
2 1.000 0.080 19 35648270 upstream gene variant G/A snv 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs11581557
rs11581557
1 1.000 0.080 1 39862786 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1187825488
rs1187825488
1 1.000 0.080 3 75737670 frameshift variant TT/- del 7.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs11889031
rs11889031
1 1.000 0.080 2 203934671 upstream gene variant C/T snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs1190271
rs1190271
1 1.000 0.080 6 105176946 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs14304
rs14304
2 1.000 0.080 17 36071135 3 prime UTR variant T/C snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs34904192
rs34904192
1 1.000 0.080 21 25569623 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3760469
rs3760469
1 1.000 0.080 17 51153191 upstream gene variant T/G snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs559635697
rs559635697
1 1.000 0.080 8 23007068 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs560890523
rs560890523
3 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.010 1.000 1 2017 2017
dbSNP: rs57698689
rs57698689
2 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48 0.010 1.000 1 2017 2017
dbSNP: rs6510502
rs6510502
2 1.000 0.080 19 35647577 upstream gene variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs7166348
rs7166348
2 1.000 0.080 15 98704566 intron variant G/A;T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs7186053
rs7186053
1 1.000 0.080 16 68805390 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs761797378
rs761797378
1 1.000 0.080 3 75737671 missense variant T/A snv 2.0E-05 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs778962647
rs778962647
1 1.000 0.080 8 91986282 missense variant G/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11600655
rs11600655
2 0.925 0.120 11 63606853 intron variant G/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs12774070
rs12774070
4 0.925 0.120 10 70753879 missense variant C/A;G snv 0.23 0.19 0.010 1.000 1 2017 2017
dbSNP: rs2064863
rs2064863
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2071676
rs2071676
4 0.925 0.120 9 35674056 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2288496
rs2288496
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs3748093
rs3748093
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs7628626
rs7628626
2 0.925 0.120 3 119525574 3 prime UTR variant A/C snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs8105637
rs8105637
2 0.925 0.120 19 5566221 intron variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs8371
rs8371
4 0.925 0.120 X 123912065 3 prime UTR variant C/T snv 0.25 0.19 0.010 1.000 1 2017 2017