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: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2001 2019
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.070 0.857 7 2001 2019
dbSNP: rs542171324
rs542171324
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs113994099
rs113994099
10 0.827 0.240 15 89320883 missense variant T/C snv 0.020 1.000 2 2007 2013
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 0.500 2 2003 2010
dbSNP: rs774005786
rs774005786
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs1417802320
rs1417802320
1 1 7962861 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs137852538
rs137852538
3 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.020 1.000 2 2014 2018
dbSNP: rs63751032
rs63751032
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs63750802
rs63750802
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs63750050
rs63750050
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750680
rs63750680
2 1.000 0.080 14 73198076 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs63750444
rs63750444
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs63750577
rs63750577
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750590
rs63750590
10 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750522
rs63750522
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1290141855
rs1290141855
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017