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: rs4837766
rs4837766
CDK5RAP2
2 0.925 0.080 9 120402006 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.040 1.000 4 2013 2019
dbSNP: rs9331888
rs9331888
CLU ; MIR6843
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2009 2016
dbSNP: rs111943087
rs111943087
CSF1R
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
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: rs11887120
rs11887120
DNMT3A
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs7354779
rs7354779
DNMT3L ; DNMT3L-AS1
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs11767557
rs11767557
EPHA1-AS1
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs9340803
rs9340803
ESR1
2 0.925 0.080 6 151842832 intron variant A/G snv 1.0E-03 3.8E-04 0.010 1.000 1 2018 2018
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: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs4684677
rs4684677
GHRL ; GHRLOS
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2017 2017
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: rs1130399
rs1130399
HLA-DQB1
1 1.000 0.040 6 32661978 missense variant G/A;T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs35445101
rs35445101
HLA-DRB1
2 0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.020 0.500 2 2019 2019
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: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs12053868
rs12053868
IL1RAP
2 0.925 0.080 3 190582215 intron variant A/G snv 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1207568
rs1207568
KL
3 0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs9527025
rs9527025
KL
1 1.000 0.040 13 33054056 missense variant G/C;T snv 0.14 0.010 1.000 1 2017 2017
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: rs6850306
rs6850306
LCORL
2 0.925 0.080 4 18004466 intron variant G/A snv 0.12 0.010 1.000 1 2018 2018
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