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 0.060 1.000 6 1998 2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 1999 2012
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2008
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 2007 2019
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
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: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 29 2010 2019
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: 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: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.020 1.000 2 2013 2014
dbSNP: rs2896019
rs2896019
PNPLA3
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 2 2013 2014
dbSNP: rs738491
rs738491
SAMM50 ; PNPLA3
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.710 1.000 2 2013 2015
dbSNP: rs1007863
rs1007863
SAMM50 ; PARVB
1 1.000 22 43999571 missense variant T/A;C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs1010022
rs1010022
PNPLA3
1 1.000 22 43940430 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs1010023
rs1010023
PNPLA3
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs11090617
rs11090617
PNPLA3
1 1.000 22 43930820 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs12483959
rs12483959
PNPLA3
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1461729
rs1461729
LOC157273
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs1474745
rs1474745
PNPLA3
1 1.000 22 43953356 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1883349
rs1883349
PNPLA3
1 1.000 22 43936063 intron variant G/A snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1883350
rs1883350
PNPLA3
1 1.000 22 43932163 intron variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1977081
rs1977081
PNPLA3
2 1.000 22 43934248 intron variant T/C;G snv 0.700 1.000 1 2013 2013