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: rs10488699
rs10488699
BUD13
1 11 116761784 intron variant C/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs1121923
rs1121923
LPL
1 8 19951924 synonymous variant G/A snv 3.3E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs11542035
rs11542035
APOE
1 19 44908706 missense variant G/A snv 1.9E-05 2.8E-05 0.010 1.000 1 1995 1995
dbSNP: rs12363280
rs12363280
SIRT3
1 11 231980 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1430583
rs1430583
UCP1
1 4 140565830 intron variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1685354
rs1685354
UCP3
1 11 74002546 intron variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs2075294
rs2075294
ZPR1
1 11 116787406 intron variant G/T snv 3.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs217428
rs217428
NPC1L1
1 7 44515974 intron variant T/G snv 0.21 0.26 0.010 1.000 1 2014 2014
dbSNP: rs217434
rs217434
NPC1L1
1 7 44513639 synonymous variant A/G snv 0.16 0.17 0.010 1.000 1 2014 2014
dbSNP: rs2229268
rs2229268
LRP2
1 2 169168573 synonymous variant A/G snv 0.20 0.16 0.010 1.000 1 2014 2014
dbSNP: rs233575
rs233575
ACE2
1 X 15564843 intron variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs3060
rs3060
DGAT2
1 11 75800527 3 prime UTR variant T/C snv 0.14 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4646142
rs4646142
ACE2
1 X 15584941 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs66698963
rs66698963
FADS2
1 11 61835025 intron variant ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG delins 0.56 0.010 1.000 1 2018 2018
dbSNP: rs7003945
rs7003945
DGAT1
1 8 144326802 5 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs730882087
rs730882087
LDLR
1 19 11106640 missense variant GG/AC mnv 0.010 1.000 1 1995 1995
dbSNP: rs751671151
rs751671151
PLAT
1 8 42180286 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs770730728
rs770730728
GCK ; LOC105375258
1 7 44147757 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1012657750
rs1012657750
SELENBP1
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020
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: 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: 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: 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: 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: rs11774572
rs11774572 		2 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 0.010 1.000 1 2010 2010