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: 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: 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: rs587777299
rs587777299
AGRN
2 0.925 0.080 1 1041582 stop gained C/T snv 0.700 0
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: rs75466054
rs75466054
CHAT
2 0.925 0.240 10 49625634 missense variant T/C;G 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: rs121908553
rs121908553
SCN4A
2 0.925 0.080 17 63941957 missense variant A/T snv 0.700 1.000 1 2003 2003
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: rs773526895
rs773526895
CHRNE ; C17orf107
2 0.925 0.080 17 4898864 frameshift variant -/C delins 1.5E-04 6.3E-05 0.700 1.000 1 2005 2005
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: 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: 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