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: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2010 2016
dbSNP: rs2279238
rs2279238
NR1H3
11 0.790 0.320 11 47260473 missense variant C/T snv 0.26 0.26 0.700 1.000 1 2018 2018
dbSNP: rs780093
rs780093
GCKR
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.700 1.000 1 2017 2017
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 5 2010 2018
dbSNP: rs881858
rs881858
LOC105375069 ; LOC107986598
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 3 2010 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2017 2019
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2016
dbSNP: rs4014195
rs4014195 		7 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 0.700 1.000 2 2010 2016
dbSNP: rs143709408
rs143709408
KCNQ1
5 0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs1728918
rs1728918 		19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs8091180
rs8091180
NFATC1
3 1.000 0.160 18 79404243 intron variant G/A snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs3812036
rs3812036
SLC34A1
5 0.925 0.120 5 177386403 intron variant C/T snv 0.23 0.20 0.700 1.000 3 2017 2018
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs963837
rs963837
LINC02859 ; LOC101928338
8 0.925 0.120 11 30727543 intergenic variant T/C snv 0.35 0.700 1.000 2 2016 2018
dbSNP: rs10851885
rs10851885
NRG4
5 0.925 0.120 15 76012162 5 prime UTR variant A/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs10994856
rs10994856
A1CF
5 0.925 0.120 10 50885488 intron variant G/A snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs10994860
rs10994860
A1CF
5 0.925 0.120 10 50885664 5 prime UTR variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs141310123
rs141310123
NFATC1
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs186459505
rs186459505
SFMBT1
5 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs3741414
rs3741414
INHBC
7 0.925 0.120 12 57450266 3 prime UTR variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs4665987
rs4665987 		6 0.925 0.120 2 27532958 upstream gene variant G/A;T snv 0.700 1.000 1 2018 2018