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: rs12734001
rs12734001
2 1.000 0.080 1 202421786 intron variant C/T snv 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs1473972013
rs1473972013
3 0.925 0.160 1 47035911 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs767181086
rs767181086
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs947211
rs947211
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4538475
rs4538475
2 1.000 0.040 4 15736314 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs9349407
rs9349407
2 1.000 0.080 6 47485642 intron variant G/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1016726
rs1016726
1 7 29316787 intron variant G/A snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs11767557
rs11767557
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs2814707
rs2814707
4 0.882 0.120 9 27536399 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3849942
rs3849942
9 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10509125
rs10509125
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs10994443
rs10994443
2 1.000 0.040 10 60635760 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs670139
rs670139
3 0.925 0.080 11 60204322 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1188539174
rs1188539174
1 12 40232341 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs1994090
rs1994090
2 1.000 0.040 12 40034759 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs766487967
rs766487967
2 1.000 0.120 16 85517 missense variant G/A snv 8.0E-06 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs372805579
rs372805579
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 1999 2013
dbSNP: rs368821179
rs368821179
3 0.925 0.160 17 80182758 missense variant T/C snv 8.0E-06 2.1E-05 0.010 1.000 1 1999 1999