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: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.020 1.000 2 2010 2016
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs12142086
rs12142086
1 1.000 1 206484465 intron variant T/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs180127
rs180127
2 0.925 0.040 17 69923642 intergenic variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs200970347
rs200970347
1 1.000 12 25215476 missense variant C/T snv 5.5E-04 3.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs2231137
rs2231137
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 < 0.001 1 2018 2018
dbSNP: rs2272733
rs2272733
2 0.925 0.080 8 42300384 intron variant T/C snv 0.71 0.010 1.000 1 2020 2020
dbSNP: rs2306744
rs2306744
2 0.925 0.080 4 70993635 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs35117667
rs35117667
1 1.000 17 7676278 splice region variant G/A snv 2.1E-03 8.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs3729740
rs3729740
3 0.882 0.080 5 38496535 splice acceptor variant C/T snv 2.2E-02 8.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs532545
rs532545
CDA
3 0.882 0.160 1 20588679 upstream gene variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs542465352
rs542465352
1 1.000 1 161543016 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs602950
rs602950
CDA
2 0.925 0.080 1 20589038 upstream gene variant A/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs766170770
rs766170770
2 0.925 0.080 11 69641374 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs769047429
rs769047429
EGF
1 1.000 4 109999827 frameshift variant -/G delins 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7729269
rs7729269
MCC
3 0.925 0.040 5 113384697 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs849142
rs849142
6 0.807 0.240 7 28146272 intron variant T/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2006 2006