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: rs373269573
rs373269573
EHMT1
2 0.925 0.080 9 137711015 missense variant G/A snv 1.6E-04 9.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs764437500
rs764437500
EHMT1
2 0.925 0.080 9 137716697 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2003 2003
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
dbSNP: rs193929375
rs193929375
GCK
3 0.882 0.120 7 44145560 missense variant C/A snv 0.010 1.000 1 2005 2005
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2006 2006
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs80356618
rs80356618
KCNJ11
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
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: 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: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs561017686
rs561017686
NEUROD1 ; CERKL
4 0.882 0.120 2 181678138 missense variant G/A;C snv 8.0E-06; 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs59852838
rs59852838
ABCC8
3 0.882 0.120 11 17453228 missense variant T/C snv 4.0E-05 4.9E-05 0.010 1.000 1 2008 2008
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.700 1.000 6 1997 2009
dbSNP: rs1057524905
rs1057524905
GCK ; LOC105375258
3 0.882 0.080 7 44147834 splice acceptor variant C/T snv 0.700 1.000 4 2003 2009
dbSNP: rs1057524901
rs1057524901
GCK
2 0.925 0.080 7 44145190 frameshift variant G/- del 0.700 1.000 3 2003 2009
dbSNP: rs1057524902
rs1057524902
GCK
3 0.882 0.080 7 44145495 splice donor variant A/T snv 0.700 1.000 3 2003 2009
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
3 0.882 0.080 7 44147765 missense variant G/A snv 0.700 1.000 3 2007 2009
dbSNP: rs1057524906
rs1057524906
GCK
2 0.925 0.080 7 44153387 missense variant A/G snv 0.700 1.000 1 2009 2009
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: rs1387153
rs1387153 		10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs193922289
rs193922289
GCK
3 0.882 0.080 7 44152420 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009