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: rs2862954
rs2862954
ERLIN1
2 0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32 0.010 1.000 1 2013 2013
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: rs3865188
rs3865188 		10 0.790 0.320 16 82617112 intergenic variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4240624
rs4240624
LOC157273
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 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: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.010 1.000 1 2014 2014
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: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
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
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018