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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 1.000 7 2003 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 0.800 5 2005 2016
dbSNP: rs7946
rs7946
PEMT
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.020 1.000 2 2005 2016
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: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1554483
rs1554483
CLOCK
5 0.882 0.160 4 55455650 intron variant C/G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs4864548
rs4864548
CLOCK
8 0.827 0.160 4 55547636 non coding transcript exon variant G/A snv 0.33 0.010 1.000 1 2007 2007
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: rs6850524
rs6850524
CLOCK
3 0.925 0.080 4 55515830 intron variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 0.667 3 2008 2016
dbSNP: rs1800234
rs1800234
PPARA
6 0.807 0.240 22 46219983 missense variant T/A;C snv 4.0E-06; 1.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs2290602
rs2290602
PPARGC1A
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs6006460
rs6006460
PNPLA3
1 1.000 0.040 22 43946294 missense variant G/T snv 7.6E-03 3.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs6503695
rs6503695
STAT3
2 0.925 0.040 17 42347515 intron variant T/C snv 0.33 0.010 1.000 1 2008 2008
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: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.900 0.953 149 2009 2020
dbSNP: rs2276736
rs2276736
AGTR1
1 1.000 0.040 3 148708086 intron variant A/G;T snv 0.020 1.000 2 2009 2013
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: rs1412189378
rs1412189378
MTTP
1 1.000 0.040 4 99583404 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs17222723
rs17222723
ABCC2
2 0.925 0.080 10 99836239 missense variant T/A snv 4.5E-02 5.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805096
rs1805096
LEPR
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2009 2009
dbSNP: rs8187710
rs8187710
ABCC2
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 0.778 9 2010 2014
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.080 0.875 8 2010 2014