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: rs10139403
rs10139403
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.070 1.000 7 2006 2020
dbSNP: rs290487
rs290487
10 0.776 0.280 10 113149972 intron variant C/T snv 0.16 0.010 1.000 1 2020 2020
dbSNP: rs4436578
rs4436578
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs13412852
rs13412852
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs1057524908
rs1057524908
2 0.925 0.080 12 120993686 frameshift variant -/C delins 0.700 1.000 4 2000 2013
dbSNP: rs137853238
rs137853238
6 0.807 0.200 12 120994265 missense variant G/A snv 0.700 1.000 6 1997 2009
dbSNP: rs137853240
rs137853240
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1565886545
rs1565886545
2 0.925 0.080 12 120996261 splice acceptor variant G/A;C snv 0.700 1.000 3 2009 2013
dbSNP: rs776793516
rs776793516
2 0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06 0.700 1.000 7 1997 2014
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2006 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2018
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs373269573
rs373269573
2 0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs764437500
rs764437500
2 0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs587777042
rs587777042
3 0.882 0.040 8 144096615 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2006 2011
dbSNP: rs1050828
rs1050828
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019