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: rs730882069
rs730882069
TSHZ1
1 1.000 0.040 18 75286488 frameshift variant -/A ins 0.700 0
dbSNP: rs730882070
rs730882070
TSHZ1
1 1.000 0.040 18 75286265 stop gained G/A snv 0.700 0
dbSNP: rs28834970
rs28834970
PTK2B
3 0.882 0.120 8 27337604 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs63750973
rs63750973
APP
3 0.882 0.120 21 25891792 missense variant G/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 2016 2016
dbSNP: rs16921209
rs16921209
NEBL ; LOC102725112
3 0.882 0.160 10 20879174 intron variant C/G snv 4.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs17076896
rs17076896
TUBA3C ; LOC101928697
3 0.882 0.160 13 19181923 upstream gene variant T/C snv 8.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs7572475
rs7572475
NCOA1
2 0.925 0.160 2 24670190 intron variant A/T snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs7637803
rs7637803
P2RY12 ; MED12L
3 0.882 0.160 3 151371438 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7849782
rs7849782
GRIN3A
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7922552
rs7922552
NEBL
2 0.925 0.160 10 20896095 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs899162
rs899162 		3 0.882 0.160 5 135459219 downstream gene variant G/A snv 1.0E-01 0.010 1.000 1 2019 2019
dbSNP: rs9309308
rs9309308 		2 0.925 0.160 2 24771701 downstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1297968881
rs1297968881
APP
3 0.882 0.200 21 26112137 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
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: rs28939068
rs28939068
CST3
9 0.790 0.200 20 23635330 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs34487851
rs34487851 		3 0.882 0.200 2 106026098 regulatory region variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs5050
rs5050
AGT
7 0.827 0.200 1 230714140 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2229634
rs2229634
ITPR3
4 0.851 0.240 6 33670403 synonymous variant C/A;T snv 4.0E-06; 0.33 0.010 1.000 1 2010 2010
dbSNP: rs79524815
rs79524815
HDAC9
4 0.851 0.240 7 18658708 intron variant T/G snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750579
rs63750579
APP
13 0.742 0.280 21 25891856 missense variant C/G;T snv 0.020 1.000 2 2004 2018
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2008 2008