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: rs587781250
rs587781250
1 1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05 0.700 1.000 5 2004 2014
dbSNP: rs1037610094
rs1037610094
1 1.000 0.080 8 26864491 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1131691282
rs1131691282
1 1.000 0.080 8 74361935 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1179887323
rs1179887323
1 1.000 0.080 6 44307303 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1424992190
rs1424992190
1 1.000 0.080 11 65132333 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs144183238
rs144183238
PRX
1 1.000 0.080 19 40397262 stop gained G/A snv 4.0E-05 4.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs1482355069
rs1482355069
1 1.000 0.080 17 15259155 frameshift variant C/- delins 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1554122541
rs1554122541
1 1.000 0.080 5 149038339 frameshift variant G/- del 0.700 1.000 1 2014 2014
dbSNP: rs199927590
rs199927590
1 1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 0.700 1.000 1 2014 2014
dbSNP: rs202176679
rs202176679
MPZ
1 1.000 0.080 1 161306116 missense variant C/G;T snv 9.5E-05; 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs369654856
rs369654856
1 1.000 0.080 22 30940006 missense variant G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs372491511
rs372491511
1 1.000 0.080 10 62814078 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs587777712
rs587777712
1 1.000 0.080 8 1882687 missense variant G/A;C snv 1.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs587781253
rs587781253
1 1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs62636522
rs62636522
1 1.000 0.080 8 24955877 missense variant G/A;C snv 4.1E-06; 7.2E-04 0.010 1.000 1 2006 2006
dbSNP: rs73982299
rs73982299
1 1.000 0.080 17 37274293 missense variant C/T snv 2.3E-04 9.3E-04 0.010 1.000 1 2020 2020
dbSNP: rs749850181
rs749850181
1 1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs760730366
rs760730366
MPZ
1 1.000 0.080 1 161307356 frameshift variant GGGAGCCC/- delins 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs776497952
rs776497952
1 1.000 0.080 10 12117722 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs780953863
rs780953863
1 1.000 0.080 15 89329040 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs786205112
rs786205112
1 1.000 0.080 17 15239509 frameshift variant C/-;CC delins 0.010 < 0.001 1 2013 2013
dbSNP: rs886041386
rs886041386
1 1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs1555937009
rs1555937009
1 1.000 0.080 X 71223757 missense variant C/G snv 0.700 0
dbSNP: rs797044801
rs797044801
1 1.000 0.080 16 70254688 missense variant T/G snv 0.700 0
dbSNP: rs797044803
rs797044803
1 1.000 0.080 11 68938355 splice donor variant G/T snv 2.1E-05 0.700 0