Source: CURATED ×
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
2 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.900 1.000 32 1991 2019
dbSNP: rs2075650
rs2075650
25 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.900 1.000 18 2009 2020
dbSNP: rs405509
rs405509
9 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.900 0.950 9 2009 2019
dbSNP: rs6656401
rs6656401
CR1
1 0.776 0.200 1 207518704 intron variant A/G;T snv 0.900 1.000 6 2009 2019
dbSNP: rs744373
rs744373
2 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.900 1.000 4 2011 2019
dbSNP: rs11136000
rs11136000
CLU
3 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.900 0.913 3 2009 2018
dbSNP: rs3865444
rs3865444
5 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.900 1.000 3 2011 2019
dbSNP: rs2373115
rs2373115
1 0.925 0.080 11 78380104 intron variant C/A snv 0.24 0.900 0.750 2 2007 2018
dbSNP: rs3851179
rs3851179
3 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.900 0.826 2 2009 2019
dbSNP: rs3764650
rs3764650
2 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.900 1.000 1 2011 2019
dbSNP: rs75932628
rs75932628
1 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.900 0.923 1 2013 2020
dbSNP: rs429358
rs429358
29 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.890 0.933 6 2005 2019
dbSNP: rs3818361
rs3818361
CR1
1 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.880 1.000 3 2009 2017
dbSNP: rs9331888
rs9331888
1 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.880 1.000 1 2009 2019
dbSNP: rs4147929
rs4147929
1 0.882 0.120 19 1063444 intron variant A/C;G snv 0.860 1.000 4 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 1 2011 2019
dbSNP: rs2279590
rs2279590
CLU
1 0.851 0.200 8 27598736 non coding transcript exon variant T/C snv 0.69 0.840 1.000 2 2009 2019
dbSNP: rs610932
rs610932
2 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.840 1.000 1 2011 2017
dbSNP: rs11218343
rs11218343
1 0.925 0.080 11 121564878 intron variant T/A;C snv 0.830 1.000 5 2013 2019
dbSNP: rs28834970
rs28834970
1 0.882 0.120 8 27337604 intron variant T/C snv 0.32 0.830 1.000 4 2013 2019
dbSNP: rs1476679
rs1476679
1 0.925 0.080 7 100406823 intron variant C/A;T snv 4.0E-06; 0.74 0.830 1.000 2 2013 2019
dbSNP: rs115550680
rs115550680
1 1.000 0.080 19 1050421 intron variant A/G snv 1.7E-02 0.830 0.667 1 2013 2019
dbSNP: rs17125944
rs17125944
1 0.882 0.160 14 52933911 intron variant T/C snv 8.6E-02 0.830 1.000 1 2013 2018
dbSNP: rs9349407
rs9349407
2 1.000 0.080 6 47485642 intron variant G/C snv 0.23 0.830 1.000 1 2011 2015
dbSNP: rs4420638
rs4420638
36 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.820 1.000 9 2007 2019