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: rs10647170
rs10647170
PRMT3
1 11 20410500 intron variant -/GGTC;GTTC;TGTC ins 0.700 1.000 1 2020 2020
dbSNP: rs112834343
rs112834343 		1 2 223734978 regulatory region variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs140154945
rs140154945
AFDN
1 6 167929243 intron variant A/-;AA;AAA delins 5.4E-02 0.700 1.000 1 2020 2020
dbSNP: rs143894582
rs143894582
PTPN11
3 1.000 0.080 12 112469070 intron variant A/-;AA delins 0.700 1.000 1 2018 2018
dbSNP: rs146298733
rs146298733
DLGAP1
1 18 4114529 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs200848948
rs200848948 		1 2 53266605 intergenic variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs4770359
rs4770359
LOC105370111
1 13 22977969 intergenic variant A/G snv 0.40 0.700 1.000 1 2020 2020
dbSNP: rs61866256
rs61866256 		1 10 83922871 intergenic variant G/A snv 1.7E-02 0.700 1.000 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 0.700 1.000 1 2014 2014
dbSNP: rs75536499
rs75536499 		1 4 542637 downstream gene variant G/A snv 1.0E-02 0.700 1.000 1 2018 2018