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: rs4149339
rs4149339
ABCA1
2 1.000 0.040 9 104782875 3 prime UTR variant G/A snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2009 2009
dbSNP: rs4743763
rs4743763
ABCA1
2 1.000 0.040 9 104830901 intron variant A/C;T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs2472386
rs2472386
ABCA1
3 1.000 0.040 9 104839260 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2011 2011
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs11066782
rs11066782
KCTD10
2 1.000 0.040 12 109472747 intron variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs11613718
rs11613718
KCTD10
2 1.000 0.040 12 109474527 intron variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs11067233
rs11067233
MMAB
2 1.000 0.040 12 109556403 3 prime UTR variant C/G snv 0.23 0.24 0.010 1.000 1 2016 2016
dbSNP: rs4773144
rs4773144
COL4A1 ; COL4A2
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs730882082
rs730882082
LDLR
5 0.882 0.080 19 11105315 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs879254535
rs879254535
LDLR
5 0.925 0.080 19 11105369 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519655
rs1057519655
LDLR
2 1.000 0.080 19 11105516 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs730882087
rs730882087
LDLR
1 19 11106640 missense variant GG/AC mnv 0.010 1.000 1 1995 1995
dbSNP: rs544453230
rs544453230
LDLR
6 0.882 0.080 19 11110714 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.030 1.000 3 2014 2019
dbSNP: rs2278426
rs2278426
ANGPTL8 ; DOCK6
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.010 1.000 1 2019 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11774572
rs11774572 		2 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs10488699
rs10488699
BUD13
1 11 116761784 intron variant C/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs10488698
rs10488698
BUD13
2 1.000 0.040 11 116763231 missense variant G/A snv 6.4E-02 4.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs2187126
rs2187126
BUD13
2 11 116765068 intron variant A/G snv 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.020 1.000 2 2010 2013
dbSNP: rs2075294
rs2075294
ZPR1
1 11 116787406 intron variant G/T snv 3.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs2075291
rs2075291
ZPR1 ; APOA5
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.010 1.000 1 2012 2012