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: rs669
rs669
A2M ; KLRG1
7 0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33 0.010 1.000 1 2000 2000
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs104894103
rs104894103
APTX
6 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2007 2007
dbSNP: rs8702
rs8702
KLC1
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2007 2007
dbSNP: rs63750048
rs63750048
PSEN2
2 0.925 0.080 1 226883817 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs8052688
rs8052688
UBE2I
1 1.000 0.040 16 1322182 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs8063
rs8063
UBE2I
1 1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71 0.010 1.000 1 2009 2009
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2011
dbSNP: rs10119
rs10119
TOMM40
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs11556510
rs11556510
TOMM40
1 1.000 0.040 19 44891562 missense variant T/G snv 9.8E-03 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11637611
rs11637611
PARP6
4 0.851 0.160 15 72259371 intron variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs12752888
rs12752888
LINC02784
4 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs59007384
rs59007384
TOMM40
4 0.851 0.080 19 44893408 intron variant G/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs157581
rs157581
TOMM40
3 0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29 0.010 1.000 1 2014 2014
dbSNP: rs33939927
rs33939927
LRRK2
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs985421
rs985421
SORL1
2 0.925 0.080 11 121491607 intron variant G/A snv 3.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2014 2015
dbSNP: rs1010159
rs1010159
SORL1
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015