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: rs10889353
rs10889353
DOCK7
5 1 62652525 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1167998
rs1167998
DOCK7
6 1 62465961 intron variant C/A snv 0.57 0.700 1.000 1 2009 2009
dbSNP: rs1168029
rs1168029
DOCK7
1 1 62503731 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs1168041
rs1168041
DOCK7
2 1 62494579 non coding transcript exon variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs17111684
rs17111684
USP24
4 1 55159875 intron variant C/T snv 3.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 1 2009 2009
dbSNP: rs67418890
rs67418890 		1 1 161571067 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs72669744
rs72669744 		1 1 55650832 intron variant C/T snv 2.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2009 2009
dbSNP: rs12713956
rs12713956
APOB
4 2 21018633 intron variant A/G snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs1367117
rs1367117
APOB
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.700 1.000 1 2009 2009
dbSNP: rs312985
rs312985 		2 2 21155933 regulatory region variant A/G snv 0.75 0.700 1.000 1 2009 2009
dbSNP: rs4245791
rs4245791
ABCG8
8 0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs506585
rs506585 		4 2 21174310 intergenic variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs673548
rs673548
APOB
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs6754295
rs6754295 		6 1.000 0.040 2 20983311 regulatory region variant T/G snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs676210
rs676210
APOB
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.700 1.000 1 2009 2009
dbSNP: rs115136538
rs115136538
ADAMTS3
1 4 72456848 intron variant T/C snv 5.7E-03 0.800 1.000 1 2012 2012
dbSNP: rs6917603
rs6917603
ZNRD1ASP
2 6 30049294 intron variant T/C snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs13247874
rs13247874
MLXIPL
1 7 73596112 intron variant C/T snv 0.15 0.15 0.800 1.000 1 2012 2012
dbSNP: rs1059611
rs1059611
LPL
3 8 19967052 3 prime UTR variant T/C snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs115849089
rs115849089 		7 8 20054859 intergenic variant G/A snv 9.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs331
rs331
LPL
4 8 19962894 intron variant G/A snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs6982636
rs6982636 		7 8 125467073 intron variant G/A snv 0.43 0.700 1.000 1 2009 2009