Source: ALL
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: rs1060503418
rs1060503418
MPZ
1 1.000 0.080 1 161306878 missense variant C/T snv 0.700 1.000 20 1993 2008
dbSNP: rs121913587
rs121913587
MPZ
1 1.000 0.080 1 161306752 missense variant A/G snv 0.800 1.000 20 1993 2008
dbSNP: rs1553259647
rs1553259647
MPZ
1 1.000 0.080 1 161306756 missense variant C/T snv 0.700 1.000 20 1993 2008
dbSNP: rs863225025
rs863225025
MPZ
1 1.000 0.080 1 161306746 missense variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs1060503420
rs1060503420
MPZ
1 1.000 0.080 1 161306831 missense variant C/T snv 0.700 0
dbSNP: rs281865122
rs281865122
MPZ
1 1.000 0.080 1 161307317 missense variant A/T snv 0.700 0
dbSNP: rs281865123
rs281865123
MPZ
1 1.000 0.080 1 161306915 missense variant G/A snv 0.700 0
dbSNP: rs281865125
rs281865125
MPZ
1 1.000 0.080 1 161306850 frameshift variant T/- del 0.700 0
dbSNP: rs281865129
rs281865129
MPZ
1 1.000 0.080 1 161306164 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs281865130
rs281865130
MPZ
1 1.000 0.080 1 161306809 missense variant T/C snv 0.700 0
dbSNP: rs281865131
rs281865131
MPZ
1 1.000 0.080 1 161306107 splice donor variant C/A snv 0.700 0
dbSNP: rs281865132
rs281865132
MPZ
1 1.000 0.080 1 161305974 missense variant G/A snv 0.700 0
dbSNP: rs281865133
rs281865133
MPZ
1 1.000 0.080 1 161307328 missense variant C/A;T snv 0.700 0
dbSNP: rs750724650
rs750724650
MPZ
1 1.000 0.080 1 161306728 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
dbSNP: rs879254054
rs879254054
MPZ
1 1.000 0.080 1 161306327 splice donor variant A/C snv 0.700 0
dbSNP: rs121913583
rs121913583
MPZ
2 0.925 0.080 1 161306870 missense variant T/C snv 0.800 1.000 20 1993 2008
dbSNP: rs121913588
rs121913588
MPZ
2 0.925 0.080 1 161306747 missense variant C/T snv 0.800 1.000 20 1993 2008
dbSNP: rs121913600
rs121913600
MPZ
2 0.925 0.080 1 161306848 missense variant C/T snv 0.800 1.000 20 1993 2008
dbSNP: rs1553259760
rs1553259760
MPZ
2 0.925 0.080 1 161307299 missense variant T/C snv 0.700 1.000 20 1993 2008
dbSNP: rs1553259790
rs1553259790
MPZ
2 0.925 0.080 1 161307340 missense variant G/A snv 0.700 1.000 20 1993 2008
dbSNP: rs863225026
rs863225026
MPZ
2 0.925 0.080 1 161305973 splice acceptor variant TCTGGGGGAGGGGCG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913608
rs121913608
MPZ
2 0.925 0.080 1 161306789 missense variant C/T snv 0.700 0
dbSNP: rs1558154193
rs1558154193
MPZ
2 0.925 0.080 1 161306880 synonymous variant C/T snv 0.700 0
dbSNP: rs281865121
rs281865121
MPZ
2 0.925 0.080 1 161307403 missense variant A/G snv 0.700 0
dbSNP: rs281865124
rs281865124
MPZ
2 0.925 0.080 1 161306912 missense variant A/G snv 0.700 0