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: rs121913590
rs121913590
MPZ
5 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.020 1.000 2 2006 2012
dbSNP: rs12137595
rs12137595 		5 0.851 0.080 1 4034008 regulatory region variant C/T snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs138382758
rs138382758
MFN2
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
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs209709
rs209709 		1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs7554182
rs7554182 		5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs10495970
rs10495970 		5 1.000 2 49264671 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs13417783
rs13417783 		3 0.925 0.120 2 166773339 regulatory region variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
dbSNP: rs17032980
rs17032980 		3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs41268673
rs41268673
SCN9A ; SCN1A-AS1
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs587777383
rs587777383
ACTG2
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2017 2017
dbSNP: rs74401238
rs74401238
SCN9A ; SCN1A-AS1
1 2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs7568498
rs7568498
TANK
5 1.000 2 161172602 intron variant T/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs801350
rs801350 		5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
dbSNP: rs801378
rs801378 		5 1.000 2 194695273 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs9636436
rs9636436 		5 1.000 2 49270867 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs301927
rs301927
EPHA6
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs745836948
rs745836948
LXN ; GFM1
2 1.000 0.040 3 158669595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006