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: rs1566638673
rs1566638673
1 1.000 0.080 14 73186881 inframe insertion -/TAT delins 0.700 0
dbSNP: rs63749964
rs63749964
APP
2 0.851 0.080 21 25891783 missense variant A/C snv 0.710 1.000 20 1991 2005
dbSNP: rs1081105
rs1081105
1 1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02 0.700 1.000 2 2018 2019
dbSNP: rs2965169
rs2965169
1 0.925 0.120 19 44747899 non coding transcript exon variant A/C snv 0.50 0.700 1.000 2 2018 2019
dbSNP: rs4663105
rs4663105
1 1.000 0.080 2 127133851 intergenic variant A/C snv 0.47 0.700 1.000 2 2016 2019
dbSNP: rs714948
rs714948
1 1.000 0.080 19 44662645 3 prime UTR variant A/C snv 0.92 0.700 1.000 2 2011 2014
dbSNP: rs10109834
rs10109834
1 1.000 0.080 8 27354759 intron variant A/C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1033301
rs1033301
1 1.000 0.080 2 17592731 intron variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs10455152
rs10455152
1 1.000 0.080 6 85308630 intergenic variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs11603136
rs11603136
1 1.000 0.080 11 86163280 regulatory region variant A/C snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs11773349
rs11773349
1 1.000 0.080 7 64946786 upstream gene variant A/C snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs117983694
rs117983694
1 1.000 0.080 11 85685837 missense variant A/C snv 5.4E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs1408077
rs1408077
CR1
1 1.000 0.080 1 207630796 intron variant A/C snv 0.84 0.700 1.000 1 2011 2011
dbSNP: rs157590
rs157590
1 0.882 0.160 19 44895459 intron variant A/C snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs17014873
rs17014873
1 1.000 0.080 2 127072643 intron variant A/C snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs17172199
rs17172199
1 1.000 0.080 7 43337677 intron variant A/C snv 5.2E-02 0.800 1.000 1 2014 2014
dbSNP: rs183562580
rs183562580
1 1.000 0.080 2 26471784 intron variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs192093332
rs192093332
1 1.000 0.080 8 83267319 intergenic variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs2015475
rs2015475
1 1.000 0.080 11 60231490 intron variant A/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs326946
rs326946
1 1.000 0.080 11 110628530 intron variant A/C snv 0.26 0.800 1.000 1 2014 2014
dbSNP: rs4844610
rs4844610
CR1
1 1.000 0.080 1 207629207 intron variant A/C snv 0.87 0.710 1.000 1 2011 2012
dbSNP: rs75617873
rs75617873
1 1.000 0.080 22 44130225 intron variant A/C snv 2.3E-02 0.800 1.000 1 2014 2014
dbSNP: rs7575209
rs7575209
1 1.000 0.080 2 127126547 intergenic variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs7933202
rs7933202
1 1.000 0.080 11 60169453 downstream gene variant A/C snv 0.28 0.700 1.000 1 2011 2011