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: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2001 2001
dbSNP: rs1049673
rs1049673
7 0.807 0.160 7 80677034 3 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10811661
rs10811661
22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs11061946
rs11061946
2 1.000 0.080 12 1719361 intron variant C/T snv 6.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs11061973
rs11061973
2 1.000 0.080 12 1756770 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1111875
rs1111875
10 0.776 0.360 10 92703125 intergenic variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2010 2010
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs13283456
rs13283456
3 0.925 0.080 9 128122474 missense variant C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2007 2007
dbSNP: rs137852787
rs137852787
5 0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs1486559930
rs1486559930
1 11 49175866 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1527483
rs1527483
2 1.000 0.080 7 80672184 intron variant G/A snv 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2010 2010
dbSNP: rs17446593
rs17446593
2 1.000 0.080 13 40553948 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs17446614
rs17446614
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 1999 1999