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: rs1057518821
rs1057518821
SLC2A1
5 1 42930671 frameshift variant G/GC in-del 0.700 0
dbSNP: rs1057516085
rs1057516085
KCNQ2
1 20 63444747 missense variant C/T snp 0.010 1.000 1 2017 2017
dbSNP: rs267607134
rs267607134
TOR1A
4 0.878 0.071 9 129818752 missense variant A/T snp 4.8E-05 1.9E-04 0.010 1.000 1 2015 2015
dbSNP: rs387906881
rs387906881
GOSR2
4 0.878 0.143 17 46935122 missense variant G/T snp 6.0E-05 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs63750050
rs63750050
PSEN1
6 0.878 0.143 14 73198106 missense variant T/G snp 0.010 1.000 1 2010 2010
dbSNP: rs63750590
rs63750590
PSEN1
10 0.784 0.179 14 73186860 missense variant A/G snp 0.010 1.000 1 2010 2010
dbSNP: rs63750756
rs63750756
MAPT
18 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs63751210
rs63751210
PSEN1
5 0.878 0.143 14 73186878 missense variant C/T snp 0.010 1.000 1 2001 2001
dbSNP: rs727502811
rs727502811
TOR1A
6 0.878 0.071 9 129814108 missense variant C/T snp 9.1E-05 9.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs760743322
rs760743322
APP
4 1.000 0.036 21 25975997 missense variant T/C snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765338554
rs765338554
AAAS
4 1.000 0.036 12 53309235 missense variant C/T snp 0.010 1.000 1 2015 2015