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: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1045644
rs1045644
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs104894075
rs104894075
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894077
rs104894077
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs104894078
rs104894078
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs104894619
rs104894619
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.030 1.000 3 2003 2011
dbSNP: rs104894621
rs104894621
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 1998 1999
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs104894708
rs104894708
PRX
5 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs10495970
rs10495970
5 1.000 2 49264671 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs10504361
rs10504361
1 8 62972541 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10509586
rs10509586
5 1.000 10 89981680 intron variant G/T snv 7.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs10555080
rs10555080
2 1.000 0.080 19 31552265 intron variant GACT/-;GACTGACT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1060503021
rs1060503021
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs10636
rs10636
7 0.851 0.160 16 56609431 3 prime UTR variant G/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs11017056
rs11017056
3 1.000 0.080 10 130032376 intron variant A/C;T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11073752
rs11073752
2 1.000 0.080 15 87879820 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs11076161
rs11076161
2 1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 0.010 1.000 1 2008 2008
dbSNP: rs11085721
rs11085721
2 1.000 0.120 19 10207300 intron variant G/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs11154178
rs11154178
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1159057
rs1159057
1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs116840817
rs116840817
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs12137595
rs12137595
5 0.851 0.080 1 4034008 regulatory region variant C/T snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs121908160
rs121908160
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004