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: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.760 1.000 6 1999 2004
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
dbSNP: rs59885338
rs59885338
LMNA
4 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.730 1.000 3 2003 2008
dbSNP: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.020 1.000 2 2003 2008
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.700 1.000 2 2008 2014
dbSNP: rs1553259760
rs1553259760
MPZ
2 0.925 0.080 1 161307299 missense variant T/C snv 0.020 1.000 2 2004 2018
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.020 1.000 2 2002 2019
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs121913597
rs121913597
MPZ
5 0.827 0.160 1 161307268 missense variant T/A snv 0.710 1.000 1 2000 2000
dbSNP: rs121913599
rs121913599
MPZ
3 0.882 0.080 1 161306763 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs121913608
rs121913608
MPZ
2 0.925 0.080 1 161306789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1553192091
rs1553192091
ATP1A1 ; ATP1A1-AS1
2 0.925 0.080 1 116395247 missense variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1553259643
rs1553259643
MPZ
2 0.925 0.080 1 161306719 frameshift variant TACA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1553259703
rs1553259703
MPZ
2 0.925 0.080 1 161306900 stop gained G/A snv 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: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 < 0.001 1 2016 2016
dbSNP: rs28940294
rs28940294
MFN2
3 0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs572010627
rs572010627
MPZ
4 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.010 1.000 1 2002 2002
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: rs863225026
rs863225026
MPZ
2 0.925 0.080 1 161305973 splice acceptor variant TCTGGGGGAGGGGCG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs879254038
rs879254038
MPZ
2 0.925 0.080 1 161306800 missense variant T/C snv 0.010 1.000 1 2000 2000