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: rs572115942
rs572115942
PHKG2
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
dbSNP: rs953686324
rs953686324
CLCNKB
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs1057524906
rs1057524906
GCK
2 0.925 0.080 7 44153387 missense variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs1385251852
rs1385251852
HNF4A ; MIR3646
2 0.925 0.080 20 44406208 frameshift variant G/- delins 0.700 1.000 1 2013 2013
dbSNP: rs556581174
rs556581174
GCK
2 0.925 0.080 7 44145637 stop gained G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs10139403
rs10139403
DLK1
1 1.000 0.040 14 100728224 intron variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs1018185646
rs1018185646
HNF4A
1 1.000 0.040 20 44428455 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs104894006
rs104894006
GCK ; LOC105375258
2 0.925 0.040 7 44149992 stop gained G/A;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs10515074
rs10515074
PIK3R1
2 0.925 0.120 5 68270365 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
4 0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40 0.010 1.000 1 2017 2017
dbSNP: rs11202592
rs11202592
PTEN ; KLLN
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121909244
rs121909244
PPARG
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.010 1.000 1 2008 2008
dbSNP: rs1272388614
rs1272388614
ABCC8
5 0.851 0.080 11 17395658 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1320702652
rs1320702652
MFAP1
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs13412852
rs13412852
LPIN1
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs137853240
rs137853240
HNF1A
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.010 1.000 1 2005 2005