Gene: PNPLA3 ×
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: 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: rs2896019
rs2896019
PNPLA3
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.810 1.000 3 2013 2018
dbSNP: rs738491
rs738491
SAMM50 ; PNPLA3
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.800 1.000 2 2013 2018
dbSNP: rs3810622
rs3810622
PNPLA3
1 1.000 0.040 22 43942254 intron variant T/C;G snv 0.40 0.710 1.000 2 2013 2016
dbSNP: rs2073082
rs2073082
SAMM50 ; PNPLA3
1 1.000 0.040 22 43964127 intron variant G/A snv 0.18 0.700 1.000 2 2012 2013
dbSNP: rs2294915
rs2294915
PNPLA3
5 1.000 0.040 22 43945024 intron variant C/G;T snv 0.700 1.000 1 2019 2019
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: rs4823173
rs4823173
PNPLA3
8 0.827 0.200 22 43932850 intron variant G/A snv 0.24 0.18 0.020 1.000 2 2015 2018
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
dbSNP: rs201268858
rs201268858
PNPLA3
2 0.925 0.120 22 43946273 missense variant C/T snv 9.5E-05 1.0E-04 0.010 1.000 1 2017 2017
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: rs2281135
rs2281135
PNPLA3
10 0.851 0.160 22 43936690 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2294918
rs2294918
PNPLA3
3 0.925 0.040 22 43946236 missense variant A/G snv 0.68 0.70 0.010 1.000 1 2016 2016
dbSNP: rs3747206
rs3747206
PNPLA3
3 0.882 0.160 22 43928850 synonymous variant C/T snv 0.010 1.000 1 2015 2015
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