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: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 14 2008 2019
dbSNP: rs3775948
rs3775948
SLC2A9 ; LOC105374476
4 0.882 0.160 4 9993558 intron variant G/A;C snv 0.800 1.000 8 2009 2019
dbSNP: rs1828911
rs1828911
HNF4G
1 8 75550312 intron variant T/C;G snv 0.700 1.000 3 2018 2019
dbSNP: rs2307394
rs2307394
ORC4
3 0.925 0.120 2 147958859 missense variant T/A;C;G snv 0.36; 8.4E-06 0.700 1.000 3 2013 2019
dbSNP: rs737267
rs737267
SLC2A9
7 0.851 0.240 4 9933120 intron variant G/A;T snv 0.800 1.000 3 2008 2016
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 3 2018 2019
dbSNP: rs10011796
rs10011796
ABCG2
4 0.882 0.160 4 88169725 intron variant T/C;G snv 0.800 1.000 2 2009 2015
dbSNP: rs10939650
rs10939650
SLC2A9 ; LOC105374476
3 0.925 0.120 4 9996816 synonymous variant C/G;T snv 1.2E-05; 0.70 0.700 1.000 2 2009 2011
dbSNP: rs1165151
rs1165151
SLC17A1
4 0.925 0.120 6 25821388 intron variant T/A;G snv 0.800 1.000 2 2009 2013
dbSNP: rs1165152
rs1165152
SLC17A1
4 0.925 0.120 6 25818538 intron variant A/C;G;T snv 0.800 1.000 2 2009 2015
dbSNP: rs1165205
rs1165205
SLC17A3
4 0.925 0.120 6 25870314 intron variant T/A;G snv 0.800 1.000 2 2008 2009
dbSNP: rs143825439
rs143825439
PLAAT2
1 11 63552521 downstream gene variant G/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs17632159
rs17632159
LOC105379030
3 0.925 0.120 5 73135655 intron variant G/A;C snv 0.700 1.000 2 2013 2019
dbSNP: rs1797052
rs1797052
PDZK1
2 1 145707383 5 prime UTR variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs2075251
rs2075251
LRP2
1 2 169154948 intron variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs2390793
rs2390793
LRP2
1 2 169348613 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.700 1.000 2 2018 2019
dbSNP: rs4529048
rs4529048
SLC2A9 ; LOC105374476
3 0.925 0.120 4 9995488 intron variant C/A;T snv 0.700 1.000 2 2009 2011
dbSNP: rs4724828
rs4724828 		1 7 1258812 intergenic variant C/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs504915
rs504915
NRXN2
3 0.925 0.120 11 64696613 intron variant T/A;C snv 0.800 1.000 2 2012 2018
dbSNP: rs57633992
rs57633992
NRXN2 ; NRXN2-AS1
1 11 64657495 intron variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs6031598
rs6031598
HNF4A
1 20 44427509 intron variant G/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs6445559
rs6445559 		1 3 53065450 intron variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs7193778
rs7193778 		4 0.882 0.120 16 69529987 intergenic variant C/G;T snv 0.700 1.000 2 2013 2019
dbSNP: rs7224610
rs7224610
HLF
4 0.925 0.120 17 55287427 intron variant C/A;G snv 0.700 1.000 2 2013 2019