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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs1387153
rs1387153 		10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs8004664
rs8004664
FOXN3
3 0.925 0.080 14 89568628 intron variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs9906827
rs9906827
RPTOR
2 0.925 0.120 17 80691605 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2273773
rs2273773
SIRT1
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs146488435
rs146488435
KCNH6
5 0.851 0.080 17 63533914 missense variant C/G;T snv 8.0E-06; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs369841551
rs369841551
MC4R
3 0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06 0.700 1.000 4 1999 2017
dbSNP: rs4580704
rs4580704
CLOCK
13 0.790 0.200 4 55460540 intron variant G/C snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4644
rs4644
LGALS3
14 0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2008 2018
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs750931344
rs750931344
SLC38A4
1 1.000 0.040 12 46769424 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1018185646
rs1018185646
HNF4A
1 1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1375557127
rs1375557127
HNF4A
2 0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06 0.700 1.000 6 2000 2016
dbSNP: rs1392795567
rs1392795567
HNF4A
2 0.925 0.080 20 44414663 splice donor variant G/A snv 0.700 1.000 4 1977 2013
dbSNP: rs1568724014
rs1568724014
HNF4A ; MIR3646
2 0.925 0.080 20 44407421 stop gained C/T snv 0.700 1.000 4 2000 2013
dbSNP: rs1385251852
rs1385251852
HNF4A ; MIR3646
2 0.925 0.080 20 44406208 frameshift variant G/- delins 0.700 1.000 1 2013 2013