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: rs797044485
rs797044485
LMNA
4 0.851 0.160 1 156134832 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs879254597
rs879254597
LDLR
4 0.851 0.120 19 11105528 stop gained G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs951599607
rs951599607
PPARG
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1554888939
rs1554888939
EHMT1
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2005 2014
dbSNP: rs748204991
rs748204991
ST14
1 1.000 0.040 11 130196396 missense variant G/A snv 2.1E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772114791
rs772114791
PCSK9
1 1.000 0.040 1 55052343 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs74315468
rs74315468
ARSA
3 0.882 0.040 22 50626841 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs1800777
rs1800777
CETP
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 1998 2009
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.100 1.000 19 2015 2020
dbSNP: rs11669576
rs11669576
LDLR ; MIR6886
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs3213445
rs3213445
CPT1B ; CHKB-CPT1B
4 0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 0.833 6 2006 2012
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.030 1.000 3 2013 2017
dbSNP: rs56225452
rs56225452
SLC27A5 ; ZBTB45 ; LOC105372486
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs12137855
rs12137855
LYPLAL1
3 0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19 0.020 1.000 2 2013 2017
dbSNP: rs1010023
rs1010023
PNPLA3
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs2896019
rs2896019
PNPLA3
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 2 2012 2018