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: 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: 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: 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: rs763818876
rs763818876
AGRN
1 1.000 0.080 1 1051775 missense variant G/A snv 8.0E-06 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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