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: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.900 1.000 58 1991 2019
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.900 0.923 52 2013 2020
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.900 1.000 33 2009 2020
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.900 0.913 23 2009 2018
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.900 0.826 23 2009 2019
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.900 0.950 20 2009 2019
dbSNP: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.900 1.000 17 2009 2019
dbSNP: rs3865444
rs3865444
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.900 1.000 16 2011 2019
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.900 1.000 14 2011 2019
dbSNP: rs2373115
rs2373115
2 0.925 0.080 11 78380104 intron variant C/A snv 0.24 0.900 0.750 12 2007 2018
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.900 1.000 11 2011 2019
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.890 0.933 15 2005 2019
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.880 1.000 11 2009 2017
dbSNP: rs9331888
rs9331888
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.880 1.000 9 2009 2019
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.860 1.000 10 2013 2019
dbSNP: rs3752246
rs3752246
2 1.000 0.080 19 1056493 missense variant G/C;T snv 0.84; 4.1E-06 0.850 0.833 6 2011 2019
dbSNP: rs2279590
rs2279590
CLU
5 0.851 0.200 8 27598736 non coding transcript exon variant T/C snv 0.69 0.840 1.000 6 2009 2019
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.840 1.000 4 2011 2017
dbSNP: rs11218343
rs11218343
2 0.925 0.080 11 121564878 intron variant T/A;C snv 0.830 1.000 8 2013 2019
dbSNP: rs28834970
rs28834970
3 0.882 0.120 8 27337604 intron variant T/C snv 0.32 0.830 1.000 7 2013 2019
dbSNP: rs1476679
rs1476679
2 0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 0.830 1.000 5 2013 2019
dbSNP: rs17125944
rs17125944
3 0.882 0.160 14 52933911 intron variant T/C snv 8.6E-02 0.830 1.000 4 2013 2018
dbSNP: rs9349407
rs9349407
2 1.000 0.080 6 47485642 intron variant G/C snv 0.23 0.830 1.000 4 2011 2015
dbSNP: rs115550680
rs115550680
1 1.000 0.080 19 1050421 intron variant A/G snv 1.7E-02 0.830 0.667 3 2013 2019
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.820 1.000 11 2007 2019