Gene: PNPLA3 ×
Source: CURATED ×
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
13 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.900 0.953 4 2009 2020
dbSNP: rs2896019
rs2896019
PNPLA3
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.810 1.000 2 2013 2018
dbSNP: rs738491
rs738491
SAMM50 ; PNPLA3
2 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 1 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