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: rs1800557
rs1800557
APP
3 0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05 0.010 1.000 1 1994 1994
dbSNP: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1315695444
rs1315695444
SELP
2 1.000 0.040 1 169611580 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs2344484
rs2344484 		3 0.925 0.040 5 135540941 upstream gene variant A/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1018381
rs1018381
DTNBP1
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs2189814
rs2189814
GRM3
3 0.925 0.040 7 86702440 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs8074995
rs8074995
PRKCA
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2004 2012
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.020 1.000 2 2004 2012
dbSNP: rs1329650
rs1329650
HECTD2-AS1
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs5522
rs5522
NR3C2
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2013 2013
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs6584400
rs6584400
NRG3
6 0.851 0.120 10 81896770 intron variant G/A snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs77369218
rs77369218
GBA
7 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2014 2014
dbSNP: rs6295
rs6295
HTR1A
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2015 2015