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: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.800 1.000 8 2012 2019
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.800 1.000 8 2009 2019
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 7 2010 2019
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 5 2012 2019
dbSNP: rs2479409
rs2479409
PCSK9
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 5 2010 2018
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.800 1.000 5 2012 2019
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.800 1.000 5 2012 2019
dbSNP: rs10889353
rs10889353
DOCK7
5 1 62652525 intron variant A/C;T snv 0.800 1.000 4 2009 2019
dbSNP: rs11207995
rs11207995
DOCK7
4 1 62583880 intron variant A/C;G snv 0.800 1.000 4 2013 2019
dbSNP: rs2131925
rs2131925
DOCK7
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 4 2010 2019
dbSNP: rs10903129
rs10903129
MACO1
4 1 25442446 intron variant A/G snv 0.58 0.800 1.000 3 2009 2018
dbSNP: rs12027135
rs12027135
MACO1
3 1 25449242 intron variant A/T snv 0.50 0.800 1.000 3 2010 2018
dbSNP: rs17111503
rs17111503
PCSK9
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.800 1.000 3 2012 2019
dbSNP: rs1748195
rs1748195
DOCK7
8 0.851 0.120 1 62583922 intron variant C/G;T snv 0.800 1.000 3 2012 2019
dbSNP: rs2495477
rs2495477
PCSK9
3 1 55052794 splice region variant A/G snv 0.42 0.49 0.800 1.000 3 2012 2019
dbSNP: rs2642442
rs2642442
MTARC1
3 1 220800221 intron variant C/T snv 0.73 0.800 1.000 3 2010 2018
dbSNP: rs28362263
rs28362263
PCSK9
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 1.000 3 2018 2019
dbSNP: rs3902354
rs3902354 		3 1 109276674 downstream gene variant C/A;T snv 0.800 1.000 3 2014 2019
dbSNP: rs514230
rs514230
LINC01132
3 1 234722850 upstream gene variant A/T snv 0.62 0.800 1.000 3 2010 2018
dbSNP: rs557933
rs557933 		2 1 234717521 intron variant A/C snv 0.65 0.700 1.000 3 2015 2018
dbSNP: rs660240
rs660240
CELSR2
6 1 109275216 3 prime UTR variant T/C snv 0.75 0.800 1.000 3 2012 2019
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.800 1.000 3 2012 2019
dbSNP: rs7515577
rs7515577
EVI5
2 1 92543881 intron variant C/A;G snv 0.800 1.000 3 2010 2018
dbSNP: rs10889348
rs10889348
DOCK7
4 1 62612551 intron variant A/T snv 0.32 0.700 1.000 2 2018 2019
dbSNP: rs11164654
rs11164654 		2 1 92502755 regulatory region variant T/C snv 0.85 0.700 1.000 2 2015 2018