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: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 10 2008 2013
dbSNP: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.700 1.000 10 2008 2013
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 6 2008 2013
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 6 2008 2013
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 5 2008 2012
dbSNP: rs562338
rs562338 		21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.700 1.000 5 2008 2012
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.700 1.000 5 2008 2013
dbSNP: rs693
rs693
APOB
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.700 1.000 5 2008 2012
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.700 1.000 4 2008 2012
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 4 2008 2013
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 4 2008 2013
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 1.000 3 2008 2012
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 3 2008 2013
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: rs660240
rs660240
CELSR2
6 1 109275216 3 prime UTR variant T/C snv 0.75 0.700 1.000 3 2008 2012
dbSNP: rs10402271
rs10402271 		7 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 0.700 1.000 2 2008 2012
dbSNP: rs11668477
rs11668477 		7 0.925 0.080 19 11084354 downstream gene variant A/G snv 0.34 0.700 1.000 2 2008 2009
dbSNP: rs12654264
rs12654264
HMGCR
7 0.925 0.120 5 75352778 intron variant A/T snv 0.38 0.700 1.000 2 2008 2012
dbSNP: rs16996148
rs16996148 		8 0.882 0.120 19 19547663 downstream gene variant G/T snv 0.10 0.700 1.000 2 2008 2012
dbSNP: rs4970834
rs4970834
CELSR2
8 0.925 0.160 1 109272258 intron variant C/T snv 0.17 0.21 0.700 1.000 2 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 0.700 1.000 2 2008 2012
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.700 1.000 2 2008 2012
dbSNP: rs7575840
rs7575840 		4 1.000 0.040 2 21050618 intergenic variant G/T snv 0.26 0.700 1.000 2 2008 2012
dbSNP: rs1713222
rs1713222 		3 2 21048451 upstream gene variant A/G snv 0.82 0.700 1.000 1 2008 2008
dbSNP: rs2254287
rs2254287
COL11A2
3 1.000 0.040 6 33176171 intron variant C/A;G;T snv 0.700 1.000 1 2008 2008