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: rs11190302
rs11190302 		1 1.000 0.080 10 99873158 downstream gene variant C/T snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs12249854
rs12249854
HECTD2 ; HECTD2-AS1
3 0.882 0.160 10 91426505 intron variant T/A snv 0.21 0.010 < 0.001 1 2009 2009
dbSNP: rs12364988
rs12364988
SORL1
1 1.000 0.080 11 121496917 missense variant T/A;C;G snv 0.49; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2009 2009
dbSNP: rs4945261
rs4945261
GAB2
2 0.925 0.080 11 78279214 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs661057
rs661057
SORL1
1 1.000 0.080 11 121458245 intron variant T/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.100 1.000 12 2010 2018
dbSNP: rs3851179
rs3851179 		15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.090 1.000 9 2010 2017
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 0.080 0.875 8 2010 2017
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.030 1.000 3 2010 2014
dbSNP: rs11754661
rs11754661
MTHFD1L
6 0.851 0.120 6 150885942 intron variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1385600
rs1385600
GAB2 ; USP35
2 0.925 0.080 11 78225120 synonymous variant A/G snv 0.25 0.27 0.010 1.000 1 2010 2010
dbSNP: rs2373115
rs2373115
GAB2
2 0.925 0.080 11 78380104 intron variant C/A snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2010 2010
dbSNP: rs6583817
rs6583817
IDE
2 0.925 0.160 10 92487490 intron variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs7910977
rs7910977 		4 0.882 0.160 10 92450119 downstream gene variant C/T snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.070 1.000 7 2011 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2011 2017
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.030 1.000 3 2011 2018