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: 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: rs10504361
rs10504361
1 8 62972541 intron variant G/A snv 0.11 0.010 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: 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: 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: rs121908160
rs121908160
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121909088
rs121909088
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121909113
rs121909113
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1249144069
rs1249144069
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1265794840
rs1265794840
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs137852643
rs137852643
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs138382758
rs138382758
2 1.000 0.080 1 12004835 missense variant G/A snv 2.1E-03 2.5E-03 0.010 1.000 1 2010 2010