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: rs1012657750
rs1012657750
SELENBP1
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020
dbSNP: rs1042031
rs1042031
APOB
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2014 2014
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: rs10488699
rs10488699
BUD13
1 11 116761784 intron variant C/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 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: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.020 1.000 2 2015 2018
dbSNP: rs10892151
rs10892151
DSCAML1 ; LOC105369515
3 1.000 11 117661016 intron variant C/T snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs11039155
rs11039155
NR1H3
6 0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12 0.010 1.000 1 2018 2018
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: 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: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2010 2015
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: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2000
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
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2008 2008
dbSNP: rs11961407
rs11961407
CCHCR1
2 6 31154630 missense variant G/A snv 3.0E-03 1.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs1211098985
rs1211098985
MTRR
3 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs12149545
rs12149545 		7 0.851 0.080 16 56959249 upstream gene variant G/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2014 2017
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2002 2016
dbSNP: rs12363280
rs12363280
SIRT3
1 11 231980 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1249051329
rs1249051329
SELENBP1
2 1 151369834 synonymous variant T/C snv 3.5E-05 0.010 1.000 1 2020 2020