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: rs626283
rs626283
MBOAT7 ; TMC4 ; LOC112268246
7 0.827 0.160 19 54173307 upstream gene variant C/G snv 0.61 0.020 0.500 2 2017 2018
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs2228603
rs2228603
NCAN
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs56225452
rs56225452
SLC27A5 ; ZBTB45 ; LOC105372486
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 45 2009 2019
dbSNP: rs1010023
rs1010023
PNPLA3
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
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: rs3213445
rs3213445
CPT1B ; CHKB-CPT1B
4 0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs74315468
rs74315468
ARSA
3 0.882 0.040 22 50626841 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2013 2013