Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11136000
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.100 1.000 12 2010 2018
dbSNP: rs3851179
rs3851179 		0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.090 1.000 9 2010 2017
dbSNP: rs10524523
rs10524523
TOMM40
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.080 0.875 8 2010 2017
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.080 1.000 8 2013 2019
dbSNP: rs6656401
rs6656401
CR1
0.776 0.200 1 207518704 intron variant A/G;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.070 1.000 7 2011 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.050 1.000 5 2005 2019
dbSNP: rs2986017
rs2986017
CALHM1
0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.050 0.800 5 2009 2010
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 0.750 4 2011 2017
dbSNP: rs3865444
rs3865444
CD33
0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 1.000 4 2015 2019
dbSNP: rs429358
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 0.750 4 1994 2019
dbSNP: rs610932
rs610932
MS4A6A
0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 1.000 4 2015 2018
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2000 2010
dbSNP: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 0.667 3 2007 2009
dbSNP: rs3764650
rs3764650
ABCA7
0.790 0.200 19 1046521 intron variant T/G snv 0.14
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2015 2020
dbSNP: rs3818361
rs3818361
CR1
0.851 0.080 1 207611623 intron variant A/G snv 0.74
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2010 2014
dbSNP: rs386747134
rs386747134
CALHM1
0.882 0.120 10 103458495 missense variant AGC/GGT mnv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 0.667 3 2009 2010
dbSNP: rs4877365
rs4877365
DAPK1
0.851 0.120 9 87540777 intron variant G/A snv 0.28
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2006 2012
dbSNP: rs4878104
rs4878104
DAPK1
0.851 0.120 9 87578076 intron variant C/T snv 0.40
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2006 2012
dbSNP: rs5984894
rs5984894
PCDH11X
0.925 0.080 X 92138738 intron variant A/G snv 0.54
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2009 2010
dbSNP: rs63750847
rs63750847
APP
0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 0.667 3 2014 2015
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2014 2019
dbSNP: rs744373
rs744373 		0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 1.000 3 2011 2018
dbSNP: rs760832624
rs760832624
CALHM1
0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 0.667 3 2009 2010
dbSNP: rs764929617
rs764929617
APOE
0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.030 0.667 3 2003 2014
dbSNP: rs10997477
rs10997477
CTNNA3 ; LRRTM3 ; LOC101928961
1.000 0.080 10 67000961 intron variant C/T snv 0.31
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.020 1.000 2 2012 2014