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: rs762368691
rs762368691
CHRNE ; C17orf107
1 1.000 0.080 17 4902679 frameshift variant -/C delins 1.0E-04 7.7E-05 0.700 1.000 4 1998 2018
dbSNP: rs606231128
rs606231128
DOK7
4 0.882 0.120 4 3493106 frameshift variant -/TGCC delins 0.700 1.000 3 2006 2012
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: rs776927709
rs776927709
CHRNE ; C17orf107
1 1.000 0.080 17 4902622 frameshift variant -/GTGAG delins 2.0E-05 0.700 1.000 3 1997 2016
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: rs763258280
rs763258280
CHRNE ; C17orf107
2 0.925 0.080 17 4898891 splice acceptor variant C/- delins 1.3E-04 7.0E-06 0.700 1.000 2 1999 2004
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: 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