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: rs104894299
rs104894299
RAPSN
6 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.750 1.000 9 2003 2017
dbSNP: rs201479289
rs201479289
CHAT
2 0.925 0.240 10 49619743 missense variant G/A snv 4.0E-05 1.0E-04 0.700 1.000 2 2011 2015
dbSNP: rs121908553
rs121908553
SCN4A
2 0.925 0.080 17 63941957 missense variant A/T snv 0.700 1.000 1 2003 2003
dbSNP: rs121908923
rs121908923
COLQ
2 0.925 0.080 3 15453838 missense variant T/C;G snv 4.1E-06; 4.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs121912819
rs121912819
CHAT
2 0.925 0.240 10 49655139 missense variant G/A snv 8.8E-05 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs121912823
rs121912823
CHAT
6 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1259002559
rs1259002559
SLC5A7
2 0.925 0.120 2 108006095 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1386820869
rs1386820869
COLQ
1 1.000 0.080 3 15466362 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1416585953
rs1416585953
GFPT1
1 1.000 0.080 2 69387070 start lost A/C snv 7.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs1431506976
rs1431506976
CHAT
1 1.000 0.080 10 49614191 start lost T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs199476396
rs199476396
AGRN
2 0.925 0.080 1 1050575 missense variant G/C snv 0.700 1.000 1 2009 2009
dbSNP: rs375215281
rs375215281
COLQ
2 0.925 0.080 3 15451691 missense variant T/A;C snv 4.0E-06; 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs387906803
rs387906803
MUSK ; LOC107987115
2 0.925 0.080 9 110767930 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587777298
rs587777298
AGRN
2 0.925 0.080 1 1050763 missense variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs756623659
rs756623659
AGRN
1 1.000 0.080 1 1022225 missense variant G/A snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs775282060
rs775282060
CHAT
1 1.000 0.080 10 49620533 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs775587809
rs775587809
MUSK
2 0.925 0.080 9 110682708 missense variant T/A snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs781908532
rs781908532
SLC25A1
8 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs786200905
rs786200905
RAPSN
3 0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05 0.700 1.000 1 2003 2003
dbSNP: rs80338951
rs80338951
SCN4A
2 0.925 0.080 17 63968322 stop gained G/A;T snv 0.700 1.000 1 2003 2003
dbSNP: rs863225046
rs863225046
SCN4A
2 0.925 0.080 17 63941912 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs879253787
rs879253787
AGRN
1 1.000 0.080 1 1022313 missense variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs879253789
rs879253789
SCN4A
2 0.925 0.080 17 63941922 missense variant G/A;T snv 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886037842
rs886037842
RAPSN
1 1.000 0.080 11 47449163 upstream gene variant G/C snv 0.700 1.000 1 2003 2003
dbSNP: rs890972469
rs890972469
CHRND
1 1.000 0.080 2 232534099 missense variant G/A snv 1.4E-05 0.010 1.000 1 2006 2006