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: rs794729669
rs794729669
GRN
1 1.000 0.120 17 44350341 splice donor variant G/C snv 0.700 0
dbSNP: rs794729670
rs794729670
GRN
1 1.000 0.120 17 44351409 stop gained T/C;G snv 0.700 0
dbSNP: rs794729671
rs794729671
GRN
1 1.000 0.120 17 44352080 frameshift variant -/T delins 0.700 0
dbSNP: rs794729672
rs794729672
GRN
1 1.000 0.120 17 44349249 frameshift variant -/C delins 0.700 0
dbSNP: rs139108915
rs139108915
PAX5
3 0.925 0.120 9 36840599 missense variant G/A snv 1.0E-05 9.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs1816
rs1816
KANSL1
3 0.882 0.200 17 46199252 intron variant A/G snv 0.14 0.010 1.000 1 2002 2002
dbSNP: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774
AHSA1
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1235948930
rs1235948930
MAPT
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63749855
rs63749855
MAPT
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs866604606
rs866604606
MAPK1
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs63750573
rs63750573
MAPT
3 0.882 0.120 17 46018627 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63751068
rs63751068
PSEN1
6 0.827 0.120 14 73186920 missense variant G/C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs866802945
rs866802945
MAPT
1 1.000 0.120 17 45983229 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.800 1.000 20 1998 2005
dbSNP: rs63751165
rs63751165
MAPT
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.830 1.000 3 1999 2005
dbSNP: rs1157289563
rs1157289563
ELP1
2 0.925 0.120 9 108881749 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121909345
rs121909345
DCTN1
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs63750905
rs63750905
MAPT
3 0.882 0.120 17 46018624 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs756007506
rs756007506
TXNRD1
1 1.000 0.120 12 104327604 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs63750043
rs63750043
GRN
2 0.925 0.120 17 44350237 missense variant C/A snv 1.1E-03 7.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs63750412
rs63750412
GRN
1 1.000 0.120 17 44352132 missense variant C/T snv 5.5E-03; 4.0E-06 5.2E-03 0.010 1.000 1 2007 2007
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008