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: rs137853240
rs137853240
HNF1A
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.800 0.917 12 2000 2011
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
1 1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62 0.840 1.000 10 2010 2019
dbSNP: rs3802177
rs3802177
SLC30A8 ; LOC105375716
5 1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24 0.820 1.000 10 2008 2019
dbSNP: rs757110
rs757110
ABCC8
6 0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06 0.790 0.900 10 1997 2018
dbSNP: rs1884614
rs1884614
LOC105372629
5 0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18 0.090 0.889 9 2004 2016
dbSNP: rs7612463
rs7612463
UBE2E2
3 0.925 0.080 3 23294959 intron variant C/A;G snv 0.840 0.889 9 2010 2018
dbSNP: rs11708067
rs11708067
ADCY5
9 0.882 0.080 3 123346931 intron variant A/G snv 0.19 0.840 0.875 8 2010 2018
dbSNP: rs1552224
rs1552224
ARAP1
4 1.000 0.080 11 72722053 5 prime UTR variant A/C snv 0.12 0.820 1.000 8 2010 2018
dbSNP: rs163184
rs163184
KCNQ1
1 1.000 0.080 11 2825839 intron variant T/G snv 0.40 0.810 1.000 8 2010 2018
dbSNP: rs2283228
rs2283228
KCNQ1
1 1.000 0.080 11 2828300 intron variant A/C snv 0.10 0.760 1.000 8 2009 2017
dbSNP: rs340874
rs340874
PROX1 ; PROX1-AS1
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.830 1.000 8 2010 2019
dbSNP: rs972283
rs972283
LOC105375508
3 1.000 0.080 7 130782095 intergenic variant A/G;T snv 0.840 1.000 8 2010 2016
dbSNP: rs10440833
rs10440833
CDKAL1
1 1.000 0.080 6 20687890 intron variant T/A;G snv 0.26 0.820 1.000 7 2010 2019
dbSNP: rs11257655
rs11257655 		4 1.000 0.080 10 12265895 TF binding site variant C/T snv 0.23 0.800 1.000 7 2013 2019
dbSNP: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
6 0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02 0.850 0.857 7 2004 2018
dbSNP: rs952497863
rs952497863
HNF4A
4 0.925 0.080 20 44414511 missense variant C/T snv 0.070 1.000 7 2003 2017
dbSNP: rs1359790
rs1359790
LOC105370275
1 1.000 0.080 13 80143021 intergenic variant G/A snv 0.23 0.810 1.000 6 2010 2019
dbSNP: rs137852783
rs137852783
PDX1
4 0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03 0.760 0.833 6 2000 2015
dbSNP: rs151290
rs151290
KCNQ1
2 1.000 0.080 11 2800385 intron variant A/C snv 0.67 0.060 0.833 6 2009 2019
dbSNP: rs2233580
rs2233580
PAX4
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.740 0.833 6 2013 2019
dbSNP: rs2237896
rs2237896
KCNQ1
1 1.000 0.080 11 2837210 intron variant G/A;T snv 0.810 1.000 6 2011 2019
dbSNP: rs243021
rs243021 		1 1.000 0.080 2 60357684 intron variant G/A snv 0.45 0.820 1.000 6 2010 2017
dbSNP: rs35927125
rs35927125
KLF11
3 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 0.060 0.833 6 2005 2009
dbSNP: rs516946
rs516946
ANK1 ; MIR486-1
1 1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78 0.820 1.000 6 2012 2018
dbSNP: rs7034200
rs7034200
GLIS3
3 1.000 0.080 9 4289050 intron variant C/A;G snv 0.750 1.000 6 2011 2019