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: rs606231128
rs606231128
DOK7
4 0.882 0.120 4 3493106 frameshift variant -/TGCC delins 0.700 1.000 3 2006 2012
dbSNP: rs121908553
rs121908553
SCN4A
2 0.925 0.080 17 63941957 missense variant A/T snv 0.700 1.000 1 2003 2003
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: 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: 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: rs879253787
rs879253787
AGRN
1 1.000 0.080 1 1022313 missense variant A/G;T snv 0.700 1.000 1 2014 2014
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
dbSNP: rs1011196447
rs1011196447
GFPT1
2 0.925 0.080 2 69354314 splice acceptor variant T/C snv 2.1E-05 0.700 0
dbSNP: rs1156634884
rs1156634884
CHRNE ; C17orf107
1 1.000 0.080 17 4899327 frameshift variant G/-;GG delins 7.0E-06 0.700 0
dbSNP: rs587777299
rs587777299
AGRN
2 0.925 0.080 1 1041582 stop gained C/T snv 0.700 0
dbSNP: rs75466054
rs75466054
CHAT
2 0.925 0.240 10 49625634 missense variant T/C;G snv 0.700 0
dbSNP: rs879253788
rs879253788
AGRN
1 1.000 0.080 1 1042136 frameshift variant -/C delins 0.700 0
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: rs754046104
rs754046104
VAMP1 ; TAPBPL
1 1.000 0.080 12 6465984 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 3.6E-05 0.700 0
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: 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: 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: rs397509422
rs397509422
GMPPB ; RNF123
4 0.851 0.080 3 49721835 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 0
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: 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: 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