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: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3136817
rs3136817
APEX1 ; OSGEP
12 0.732 0.280 14 20456275 intron variant T/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs764929617
rs764929617
APOE
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1386984902
rs1386984902
APP
9 0.790 0.160 21 26000095 missense variant G/A snv 0.040 1.000 4 2006 2020
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104894103
rs104894103
APTX
6 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs377522479
rs377522479
ARHGAP24
4 0.882 0.080 4 85931021 missense variant C/T snv 2.0E-05 3.5E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs771723690
rs771723690
ARHGAP24
3 0.882 0.080 4 85570622 synonymous variant G/A snv 1.6E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs781734330
rs781734330
ATP13A2
4 0.851 0.080 1 16995981 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs8173
rs8173
AURKA
9 0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121964884
rs121964884
AVP
4 0.851 0.200 20 3083005 stop gained G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs6435862
rs6435862
BARD1
5 0.827 0.160 2 214807822 intron variant G/A;C;T snv 0.030 1.000 3 2013 2019
dbSNP: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 0.020 1.000 2 2016 2019
dbSNP: rs17487792
rs17487792
BARD1
3 0.882 0.080 2 214778776 intron variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs3738888
rs3738888
BARD1
3 0.882 0.080 2 214730440 missense variant G/A;T snv 8.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs3768707
rs3768707
BARD1
3 0.882 0.080 2 214780411 intron variant A/G snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs17489363
rs17489363
BARD1 ; SNHG31
3 0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74 0.020 1.000 2 2018 2019
dbSNP: rs1048108
rs1048108
BARD1 ; SNHG31
5 0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019