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: rs137852741
rs137852741
7 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.040 1.000 4 2010 2016
dbSNP: rs10744676
rs10744676
2 0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88 0.010 1.000 1 2010 2010
dbSNP: rs1085307252
rs1085307252
3 0.882 0.080 2 202518890 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1085307253
rs1085307253
3 0.882 0.080 2 202518890 frameshift variant AG/T delins 0.010 1.000 1 2014 2014
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1359984100
rs1359984100
1 1.000 0.040 7 151010603 stop gained C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs137852749
rs137852749
3 0.882 0.080 2 202552774 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs201234174
rs201234174
2 0.925 0.080 11 1017655 missense variant G/A snv 4.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2277382
rs2277382
1 1.000 0.040 12 51912437 missense variant C/T snv 8.4E-02 7.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs344781
rs344781
7 0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs367837827
rs367837827
2 0.925 0.080 6 30922159 missense variant C/T snv 1.9E-04 7.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs374514431
rs374514431
2 0.925 0.040 2 69400462 missense variant C/A snv 1.5E-04 1.2E-04 0.010 1.000 1 2020 2020
dbSNP: rs41322046
rs41322046
1 1.000 0.040 9 127825812 missense variant C/T snv 8.8E-03 9.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2017 2017
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs5743704
rs5743704
9 0.763 0.240 4 153704799 missense variant C/A snv 2.8E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs619586
rs619586
15 0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
dbSNP: rs775921458
rs775921458
1 1.000 0.040 11 17407404 missense variant C/T snv 3.2E-05 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs863223746
rs863223746
3 0.925 0.080 15 67187472 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs886039303
rs886039303
5 0.882 0.160 10 88941310 missense variant G/A snv 0.010 1.000 1 2013 2013