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: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 1999 2017
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2017 2018
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2000 2016
dbSNP: rs63750376
rs63750376
7 0.827 0.120 17 45996657 missense variant G/T snv 0.030 1.000 3 2003 2006
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2017
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2011
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2012 2013
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2010 2011
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 2006 2008
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.020 1.000 2 2011 2012
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2011 2018
dbSNP: rs1043202
rs1043202
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs112451138
rs112451138
2 0.925 0.080 14 73192667 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1233347077
rs1233347077
4 0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12604324
rs12604324
1 1.000 0.080 18 24164468 intron variant G/A snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs1401663578
rs1401663578
ACE
4 0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 < 0.001 1 2009 2009
dbSNP: rs1741309
rs1741309
1 1.000 0.080 20 4163930 intron variant A/G snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs17518584
rs17518584
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019