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: rs10499563
rs10499563
STEAP1B
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs12447924
rs12447924
CETP
3 1.000 16 56960280 upstream gene variant C/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs12597002
rs12597002
CETP
3 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs12743824
rs12743824 		2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.010 1.000 1 2016 2016
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: 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: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs2071303
rs2071303
HFE ; LOC108783645
6 0.882 0.120 6 26091108 splice region variant T/C snv 0.38 0.36 0.010 1.000 1 2016 2016
dbSNP: rs2072906
rs2072906
PNPLA3
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2228530
rs2228530
PPP1CB
1 1.000 2 28778825 missense variant A/C;G snv 0.010 1.000 1 2018 2018
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: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs3480
rs3480
FNDC5
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs4674344
rs4674344
CYP27A1
1 1.000 2 218805152 intron variant A/T snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs694539
rs694539
NNMT
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs72563732
rs72563732
ADIPOQ ; ADIPOQ-AS1
3 0.882 0.040 3 186854563 synonymous variant C/T snv 6.4E-05 2.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs7643645
rs7643645
NR1I2
3 0.882 0.080 3 119806650 intron variant A/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs8050136
rs8050136
FTO
32 0.716 0.560 16 53782363 intron variant C/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2016 2016