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 0.923 0.107 7 68579188 intergenic variant C/T snp 7.8E-02 0.700 1 2018 2018
dbSNP: rs4978818
rs4978818
2 0.923 0.107 9 109509949 intergenic variant G/A,C,T snp 0.85 0.700 1 2018 2018
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.040 1.000 4 2008 2016
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.040 1.000 4 2008 2016
dbSNP: rs11136000
rs11136000
CLU
10 0.744 0.179 8 27607002 intron variant T/C snp 0.57 0.020 1.000 2 2014 2015
dbSNP: rs3851179
rs3851179
8 0.769 0.214 11 86157598 intergenic variant T/C snp 0.69 0.020 1.000 2 2015 2018
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.020 1.000 2 2013 2016
dbSNP: rs75932628
rs75932628
22 0.679 0.250 6 41161514 missense variant C/A,T snp 6.8E-05; 2.6E-03 1.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs1010159
rs1010159
3 0.878 0.071 11 121612692 non coding transcript exon variant C/T snp 0.55 0.56 0.010 1.000 1 2016 2016
dbSNP: rs10119
rs10119
5 0.923 0.071 19 44903416 3 prime UTR variant G/A snp 0.29 0.010 < 0.001 1 2012 2012
dbSNP: rs11556510
rs11556510
1 1.000 0.036 19 44891562 missense variant T/G snp 9.8E-03 1.5E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs11637611
rs11637611
3 0.878 0.143 15 72259371 intron variant C/T snp 0.63 0.010 1.000 1 2013 2013
dbSNP: rs11767557
rs11767557
3 0.878 0.071 7 143412046 intron variant T/C snp 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1187120
rs1187120
2 0.923 0.036 6 34182850 regulatory region variant T/C snp 0.99 0.010 1.000 1 2016 2016
dbSNP: rs12053868
rs12053868
4 0.846 0.107 3 190582215 intron variant A/G snp 8.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs12344615
rs12344615
2 0.923 0.071 9 83666280 intron variant A/C,G snp 3.2E-05; 0.19 0.010 < 0.001 1 2012 2012
dbSNP: rs1256049
rs1256049
21 0.679 0.429 14 64257333 synonymous variant C/T snp 6.7E-02 7.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs12752888
rs12752888
3 0.878 0.143 1 54527266 intergenic variant T/C snp 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1334496
rs1334496
1 1.000 0.036 X 137178554 intergenic variant C/A,T snp 0.88 0.010 1.000 1 2016 2016
dbSNP: rs15009
rs15009
2 0.923 0.071 5 58454523 3 prime UTR variant C/G snp 0.35 0.010 1.000 1 2016 2016
dbSNP: rs157581
rs157581
3 0.923 0.071 19 44892457 synonymous variant T/C snp 0.25 0.29 0.010 1.000 1 2015 2015
dbSNP: rs2070045
rs2070045
4 0.846 0.071 11 121577381 synonymous variant T/G snp 0.32 0.23 0.010 1.000 1 2016 2016
dbSNP: rs33939927
rs33939927
18 0.734 0.107 12 40310434 missense variant C/A,G,T snp 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs3756577
rs3756577
2 0.923 0.071 5 150249081 intron variant C/T snp 0.13 0.010 1.000 1 2016 2016
dbSNP: rs375752214
rs375752214
13 0.756 0.214 7 150998541 missense variant C/T snp 4.1E-06 3.2E-05 0.010 1.000 1 2011 2011