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: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 26 1991 2019
dbSNP: rs3851179
rs3851179
0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.826 22 2009 2019
dbSNP: rs63750231
rs63750231
0.689 0.160 14 73198100 missense variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 0.955 22 1997 2020
dbSNP: rs11136000
rs11136000
CLU
0.752 0.160 8 27607002 intron variant T/C snv 0.56
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.913 21 2009 2018
dbSNP: rs386747134
rs386747134
0.882 0.120 10 103458495 missense variant AGC/GGT mnv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 0.933 15 2008 2016
dbSNP: rs760832624
rs760832624
0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 0.933 15 2008 2016
dbSNP: rs3865444
rs3865444
0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 13 2011 2019
dbSNP: rs63750215
rs63750215
0.701 0.240 1 226885603 missense variant A/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 1.000 13 1997 2018
dbSNP: rs1386984902
rs1386984902
APP
0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 1.000 12 2003 2020
dbSNP: rs17070145
rs17070145
0.790 0.120 5 168418786 intron variant C/T snv 0.43
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 0.917 12 2009 2018
dbSNP: rs3764650
rs3764650
0.790 0.200 19 1046521 intron variant T/G snv 0.14
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 11 2011 2019
dbSNP: rs405509
rs405509
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.950 11 2009 2019
dbSNP: rs6656401
rs6656401
CR1
0.776 0.200 1 207518704 intron variant A/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 11 2009 2019
dbSNP: rs10524523
rs10524523
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 0.900 10 2012 2017
dbSNP: rs2373115
rs2373115
0.925 0.080 11 78380104 intron variant C/A snv 0.24
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.750 10 2007 2018
dbSNP: rs572842823
rs572842823
APP
0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 1.000 10 1998 2018
dbSNP: rs63750306
rs63750306
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 1.000 10 2001 2017
dbSNP: rs744373
rs744373
0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 1.000 10 2011 2019
dbSNP: rs63751039
rs63751039
APP
0.776 0.200 21 25891855 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.790 1.000 9 2001 2019
dbSNP: rs3818361
rs3818361
CR1
0.851 0.080 1 207611623 intron variant A/G snv 0.74
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.880 1.000 8 2009 2017
dbSNP: rs5848
rs5848
0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 1.000 8 2009 2017
dbSNP: rs63751273
rs63751273
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 1.000 8 2003 2019
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.070 0.714 7 2002 2017
dbSNP: rs63750526
rs63750526
0.776 0.160 14 73192832 missense variant C/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.070 1.000 7 2000 2014
dbSNP: rs242557
rs242557
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 0.833 6 2008 2017