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: rs371334506
rs371334506
SPG11
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs515726205
rs515726205
C19orf12
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs63750301
rs63750301
PSEN1
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs63751011
rs63751011
MAPT
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs765061840
rs765061840
SPG11
6 0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 1.000 8 2006 2020
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 1.000 7 2006 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2019
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2008 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2019
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2002 2013
dbSNP: rs1800764
rs1800764 		10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2014 2014
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2018 2019
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 1.000 2 2012 2015
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 2012 2018
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007
dbSNP: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs11030108
rs11030108
BDNF ; BDNF-AS
3 1.000 0.040 11 27673917 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs112422930
rs112422930
MUTYH
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011