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: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2019
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2019 2019
dbSNP: rs6843722
rs6843722
CLOCK
1 1.000 0.040 4 55465165 intron variant A/C snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs9891119
rs9891119
STAT3
3 0.882 0.120 17 42355962 intron variant A/C snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.820 1.000 2 2010 2014
dbSNP: rs5764455
rs5764455
SAMM50 ; PARVB
1 1.000 0.040 22 44002644 intron variant A/C;G snv 0.710 1.000 2 2013 2016
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs4686434
rs4686434
FETUB ; LOC105374258
1 1.000 0.040 3 186647354 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1131580
rs1131580
TNFSF10
4 0.882 0.160 3 172505830 3 prime UTR variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs698718
rs698718 		1 1.000 0.040 16 68526282 upstream gene variant A/C;G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.600 5 2007 2016
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.030 1.000 3 2013 2018
dbSNP: rs139051
rs139051
PNPLA3
1 1.000 0.040 22 43928796 intron variant A/G snv 0.56 0.59 0.030 1.000 3 2012 2018
dbSNP: rs4374383
rs4374383
MERTK
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2019
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.020 1.000 2 2013 2018
dbSNP: rs17321515
rs17321515 		16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.020 1.000 2 2019 2019
dbSNP: rs2954021
rs2954021 		15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.020 1.000 2 2014 2019
dbSNP: rs3761472
rs3761472
SAMM50
2 0.925 0.040 22 43972242 missense variant A/G snv 0.21 0.18 0.710 1.000 2 2013 2018
dbSNP: rs3772627
rs3772627
AGTR1
1 1.000 0.040 3 148712467 intron variant A/G snv 0.44 0.020 1.000 2 2009 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs11599176
rs11599176
SIRT1
2 0.925 0.080 10 67894017 intron variant A/G snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs139271658
rs139271658
PTPRD
2 1.000 0.040 9 9797383 intron variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs143392071
rs143392071
PNPLA3
1 1.000 0.040 22 43933050 missense variant A/G snv 7.2E-04 2.1E-04 0.010 1.000 1 2017 2017