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: 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: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs137852642
rs137852642
NOTCH3
9 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs1394871591
rs1394871591
ABCA1
5 0.827 0.200 9 104903619 missense variant G/C snv 4.8E-06 0.010 1.000 1 2005 2005
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2011 2011
dbSNP: rs1800764
rs1800764 		10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs185645212
rs185645212
POLG
6 0.851 0.240 15 89323504 missense variant C/A;T snv 8.0E-06; 9.7E-04 0.010 1.000 1 2010 2010
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: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs223330
rs223330
CISD2
4 0.851 0.160 4 102872502 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs223331
rs223331
CISD2
5 0.851 0.160 4 102872408 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2281983
rs2281983
PITX3
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs2298813
rs2298813
SORL1
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2018 2018
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: 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: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2010 2010
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: rs3764435
rs3764435
ALDH1A1
5 0.827 0.120 9 72901960 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2014 2014
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs41526548
rs41526548 		1 1.000 0.080 9 92129496 upstream gene variant T/C snv 0.700 1.000 1 2014 2014