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: rs1712572
rs1712572
LINC00882
1 1.000 0.080 3 106898231 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1393704451
rs1393704451
RANBP2 ; SH3RF3 ; SH3RF3-AS1
1 1.000 0.080 2 109129746 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1015909000
rs1015909000
NFIB
1 1.000 0.080 9 14146790 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs773029808
rs773029808
SORBS2
1 1.000 0.080 4 185626897 missense variant C/G snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs139155954
rs139155954
SORBS2
1 1.000 0.080 4 185662115 missense variant C/G;T snv 6.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs58973334
rs58973334
PSEN2
3 0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs140501902
rs140501902
PSEN2
6 0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs28936380
rs28936380
PSEN2
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs202178897
rs202178897
PSEN2
1 1.000 0.080 1 226885596 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2018
dbSNP: rs1215971988
rs1215971988
PSEN2
1 1.000 0.080 1 226885618 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs778936527
rs778936527
PSEN2
2 0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1996 1996
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: rs63749884
rs63749884
PSEN2
5 0.851 0.160 1 226888979 missense variant G/A snv 0.040 1.000 4 2000 2012
dbSNP: rs1482790603
rs1482790603
PSEN2
1 1.000 0.080 1 226891284 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1281129992
rs1281129992
APP
3 0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2019 2019
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 2006 2006
dbSNP: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.060 1.000 6 1992 2007
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.100 0.909 11 1991 2019
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs63750064
rs63750064
APP
2 0.925 0.080 21 25897605 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs63750847
rs63750847
APP
8 0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04 0.020 1.000 2 2014 2016
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.070 1.000 7 1994 2016