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: rs806378
rs806378
2 1.000 0.040 6 88149832 intron variant C/T snv 0.21 0.020 1.000 2 2011 2013
dbSNP: rs10474485
rs10474485
2 1.000 0.040 5 76975028 intron variant C/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs149382949
rs149382949
2 1.000 0.040 2 219232579 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17837965
rs17837965
1 1.000 0.040 1 22068132 intron variant A/G snv 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs201253747
rs201253747
2 1.000 0.040 5 148483142 3 prime UTR variant A/G snv 2.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs245051
rs245051
1 1.000 0.040 5 149966412 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4537731
rs4537731
3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs684302
rs684302
1 1.000 0.040 11 18038806 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs7130929
rs7130929
1 1.000 0.040 11 18046616 upstream gene variant C/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs750438327
rs750438327
TG
2 1.000 0.040 8 132888076 missense variant G/A;C snv 7.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs77005575
rs77005575
2 1.000 0.040 6 32611931 intergenic variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs9999118
rs9999118
1 1.000 0.040 4 123130312 intron variant A/G snv 1.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs137854608
rs137854608
2 0.925 0.120 3 38609776 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs3779250
rs3779250
2 0.925 0.080 7 30654644 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs41311127
rs41311127
2 0.925 0.120 3 38562500 missense variant A/G snv 6.5E-04 4.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs62636489
rs62636489
3 0.925 0.040 12 52898860 missense variant G/A snv 7.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs242924
rs242924
3 0.882 0.080 17 45808001 intron variant G/T snv 0.44 0.020 1.000 2 2012 2016
dbSNP: rs11554825
rs11554825
3 0.882 0.120 2 218261086 5 prime UTR variant C/T snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs3765534
rs3765534
4 0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs7209436
rs7209436
5 0.851 0.200 17 45792776 intron variant C/T snv 0.43 0.030 1.000 3 2012 2016
dbSNP: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2349775
rs2349775
6 0.851 0.120 7 8678450 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs3129891
rs3129891
5 0.851 0.160 6 32447303 downstream gene variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs4722999
rs4722999
5 0.851 0.080 7 30654159 intron variant C/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs11190140
rs11190140
6 0.827 0.160 10 99531836 upstream gene variant T/C snv 0.55 0.010 1.000 1 2012 2012