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: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 12 2008 2019
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.800 1.000 12 2008 2019
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.800 1.000 11 2008 2019
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.800 1.000 10 2008 2019
dbSNP: rs660240
rs660240
CELSR2
6 1 109275216 3 prime UTR variant T/C snv 0.75 0.800 1.000 8 2008 2019
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.800 1.000 7 2008 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 2008 2019
dbSNP: rs2479409
rs2479409
PCSK9
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 6 2010 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 6 2012 2019
dbSNP: rs2131925
rs2131925
DOCK7
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 5 2010 2019
dbSNP: rs514230
rs514230
LINC01132
3 1 234722850 upstream gene variant A/T snv 0.62 0.800 1.000 5 2010 2019
dbSNP: rs12027135
rs12027135
MACO1
3 1 25449242 intron variant A/T snv 0.50 0.800 1.000 4 2010 2019
dbSNP: rs2642438
rs2642438
MTARC1
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 4 2017 2019
dbSNP: rs2642442
rs2642442
MTARC1
3 1 220800221 intron variant C/T snv 0.73 0.800 1.000 4 2010 2019
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.800 1.000 4 2008 2019
dbSNP: rs10889348
rs10889348
DOCK7
4 1 62612551 intron variant A/T snv 0.32 0.700 1.000 3 2015 2019
dbSNP: rs11806638
rs11806638
PCSK9
3 1 55052487 intron variant C/A;G 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: rs28362286
rs28362286
PCSK9
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.700 1.000 3 2014 2019
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.800 1.000 3 2012 2017
dbSNP: rs602633
rs602633 		10 0.851 0.080 1 109278889 downstream gene variant T/G snv 0.63 0.700 1.000 3 2008 2012
dbSNP: rs611917
rs611917
CELSR2
5 1.000 0.040 1 109272630 non coding transcript exon variant A/G snv 0.28 0.32 0.800 1.000 3 2008 2018
dbSNP: rs10903129
rs10903129
MACO1
4 1 25442446 intron variant A/G snv 0.58 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
dbSNP: rs11207995
rs11207995
DOCK7
4 1 62583880 intron variant A/C;G snv 0.700 1.000 2 2018 2019