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: rs200113
rs200113 		1 5 8652758 intergenic variant T/C snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs2725220
rs2725220
PKD2
1 4 88038770 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs742132
rs742132
CARMIL1
4 0.925 0.120 6 25607343 intron variant A/G snv 0.29 0.800 1.000 1 2009 2009
dbSNP: rs877282
rs877282 		1 10 725592 intergenic variant G/A snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs889472
rs889472
LOC101928230
3 0.925 0.040 16 79612092 intergenic variant C/A;G snv 0.800 1.000 1 2012 2012
dbSNP: rs2199936
rs2199936
ABCG2
5 0.882 0.160 4 88124179 intron variant A/G;T snv 0.88 0.700 1.000 4 2010 2019
dbSNP: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 3 2018 2019
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.700 1.000 3 2013 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: rs6026578
rs6026578
GNAS ; LOC101927932
4 20 58888417 5 prime UTR variant C/G snv 0.60 0.700 1.000 3 2018 2019
dbSNP: rs675209
rs675209 		5 0.882 0.160 6 7101851 intergenic variant T/C snv 0.64 0.700 1.000 3 2010 2019
dbSNP: rs7679724
rs7679724
SLC2A9
1 4 9983752 intron variant G/T snv 0.65 0.700 1.000 3 2018 2019
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 3 2018 2019
dbSNP: rs963837
rs963837
LINC02859 ; LOC101928338
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 3 2018 2019
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 3 2018 2019
dbSNP: rs10480300
rs10480300
PRKAG2
6 0.925 0.120 7 151708919 intron variant C/T snv 0.24 0.700 1.000 2 2013 2019
dbSNP: rs1051921
rs1051921
MLXIPL
8 0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15 0.700 1.000 2 2019 2019
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: rs11202346
rs11202346
SHLD2
1 10 87149155 intron variant G/T snv 0.69 0.700 1.000 2 2018 2019
dbSNP: rs11264341
rs11264341
TRIM46
4 0.925 0.120 1 155179017 intron variant C/T snv 0.40 0.700 1.000 2 2013 2019
dbSNP: rs1178977
rs1178977
BAZ1B
7 0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21 0.700 1.000 2 2013 2019
dbSNP: rs12123298
rs12123298
RNF115
3 0.925 0.120 1 145744615 3 prime UTR variant G/A;C snv 0.27 0.700 1.000 2 2018 2019
dbSNP: rs13113918
rs13113918
SLC2A9 ; LOC105374476
3 0.925 0.120 4 9996869 synonymous variant A/G snv 0.80 0.79 0.700 1.000 2 2009 2011
dbSNP: rs143825439
rs143825439
PLAAT2
1 11 63552521 downstream gene variant G/A;T snv 0.700 1.000 2 2018 2019