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: rs587781262
rs587781262
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs3750898
rs3750898
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs119103263
rs119103263
19 0.827 0.240 1 11992659 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs377504835
rs377504835
1 12 120438230 splice donor variant G/A;C snv 4.0E-06; 4.9E-05 0.700 0
dbSNP: rs755919784
rs755919784
2 1.000 0.080 20 13072400 missense variant T/C snv 2.6E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs143473232
rs143473232
3 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397507478
rs397507478
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs781984979
rs781984979
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781939614
rs781939614
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs12568757
rs12568757
2 1 150757317 intron variant G/A snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs104894619
rs104894619
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2003 2003
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs879253863
rs879253863
4 0.925 0.160 4 153324126 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs794728588
rs794728588
2 1.000 0.040 1 156115262 missense variant A/T snv 0.700 0
dbSNP: rs3887412
rs3887412
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs769405586
rs769405586
6 0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs72653786
rs72653786
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
dbSNP: rs17183814
rs17183814
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs1474642
rs1474642
2 6 170543473 intron variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs6552496
rs6552496
2 4 181371930 intergenic variant C/A snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs587783070
rs587783070
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014