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: 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 2001 2012
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 0.500 2 2006 2012
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 2008 2012
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.020 1.000 2 2011 2012
dbSNP: rs1044396
rs1044396
CHRNA4
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs3087258
rs3087258
IL1B
2 0.925 0.080 2 112837294 upstream gene variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs529782627
rs529782627
APP
3 0.882 0.120 21 26112051 missense variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs6332
rs6332
NTF3
4 0.851 0.080 12 5494466 synonymous variant G/A;T snv 0.49; 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs6347
rs6347
SLC6A3
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.010 1.000 1 2012 2012
dbSNP: rs63750151
rs63750151
APP
3 0.882 0.080 21 25891761 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs6489630
rs6489630
NTF3
3 0.882 0.080 12 5495458 intron variant T/C snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs8126696
rs8126696 		3 0.882 0.080 21 37358422 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2012 2013
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs17571
rs17571
CTSD
6 0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs2306604
rs2306604
TFAM
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2618516
rs2618516
SPON1
3 0.882 0.080 11 14000092 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs373885474
rs373885474
GRN
2 0.925 0.080 17 44352061 missense variant C/A;T snv 7.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs63751032
rs63751032
PSEN1
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013