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: rs199476396
rs199476396
AGRN
2 0.925 0.080 1 1050575 missense variant G/C snv 0.700 1.000 1 2009 2009
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: rs879253787
rs879253787
AGRN
1 1.000 0.080 1 1022313 missense variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs587777299
rs587777299
AGRN
2 0.925 0.080 1 1041582 stop gained C/T snv 0.700 0
dbSNP: rs763818876
rs763818876
AGRN
1 1.000 0.080 1 1051775 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs764160563
rs764160563
AGRN
1 1.000 0.080 1 1050473 missense variant G/A snv 2.0E-05 7.0E-06 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: 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: 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: rs769982050
rs769982050
COLQ
2 0.925 0.080 3 15456012 frameshift variant G/- delins 4.8E-05 9.8E-05 0.700 1.000 3 1998 2014
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: 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: 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: rs606231128
rs606231128
DOK7
4 0.882 0.120 4 3493106 frameshift variant -/TGCC delins 0.700 1.000 3 2006 2012
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: 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: 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: 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: rs1431506976
rs1431506976
CHAT
1 1.000 0.080 10 49614191 start lost T/G snv 0.010 1.000 1 2018 2018
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