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: rs4718789
rs4718789
2 0.925 0.120 7 68579188 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs4978818
rs4978818
2 0.925 0.120 9 109509949 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.714 7 2008 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 0.667 6 2008 2020
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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2009 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2011
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2016 2019
dbSNP: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.020 1.000 2 2019 2019
dbSNP: rs3846662
rs3846662
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: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.020 1.000 2 2015 2017
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 2016 2016
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2014 2015
dbSNP: rs1010159
rs1010159
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015
dbSNP: rs10119
rs10119
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs10407447
rs10407447
1 1.000 0.040 19 40363275 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs104894103
rs104894103
6 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs111943087
rs111943087
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs11218304
rs11218304
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1130399
rs1130399
1 1.000 0.040 6 32661978 missense variant G/A;T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs11556510
rs11556510
1 1.000 0.040 19 44891562 missense variant T/G snv 9.8E-03 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11637611
rs11637611
4 0.851 0.160 15 72259371 intron variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs11667768
rs11667768
1 1.000 0.040 19 40348525 5 prime UTR variant C/T snv 6.3E-02 0.11 0.010 1.000 1 2018 2018
dbSNP: rs11767557
rs11767557
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015