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: rs148311934
rs148311934
GCK ; LOC105375258
5 0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 11 1997 2016
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
4 0.882 0.080 7 44147726 missense variant A/G snv 7.0E-06 0.700 1.000 7 2002 2015
dbSNP: rs144723656
rs144723656
GCK ; LOC105375258
2 0.925 0.080 7 44149794 stop gained G/A;C;T snv 9.5E-03 0.700 1.000 5 2000 2017
dbSNP: rs104894008
rs104894008
GCK ; LOC105375258
3 0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs137852783
rs137852783
PDX1
4 0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03 0.700 0
dbSNP: rs149703259
rs149703259
NEUROD1 ; CERKL
2 0.925 0.080 2 181678552 synonymous variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1555212248
rs1555212248
HNF1A
2 0.925 0.080 12 120996570 frameshift variant T/- del 0.700 0
dbSNP: rs1562719705
rs1562719705
GCK
2 0.925 0.080 7 44153361 missense variant G/A snv 0.700 0
dbSNP: rs762263694
rs762263694
GCK
2 0.925 0.080 7 44153403 missense variant G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.030 1.000 3 2004 2019
dbSNP: rs1057520504
rs1057520504
HNF1A
4 0.882 0.080 12 120994238 missense variant G/A snv 0.020 0.500 2 2009 2015
dbSNP: rs104894009
rs104894009
GCK ; LOC105375258
3 0.882 0.120 7 44146587 missense variant C/G snv 0.010 1.000 1 1995 1995
dbSNP: rs1057520779
rs1057520779
HNF1A
1 1.000 0.080 12 120993679 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1064793998
rs1064793998
GCK
3 0.882 0.080 7 44153325 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1172328722
rs1172328722
HNF1A
2 0.925 0.080 12 120988982 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1193512118
rs1193512118
PPARA
1 1.000 0.080 22 46198448 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs121908260
rs121908260
INS ; INS-IGF2
4 0.851 0.160 11 2160835 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1255911887
rs1255911887
GCK ; LOC105375258
3 0.925 0.080 7 44146584 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs137852787
rs137852787
PDX1
5 0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs137853243
rs137853243
HNF1A
3 0.882 0.080 12 120988841 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs137853336
rs137853336
HNF4A
5 0.851 0.080 20 44413714 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs142827509
rs142827509
PASK
3 0.925 0.080 2 241112423 missense variant C/T snv 8.0E-04 7.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs1441649062
rs1441649062
GCK ; LOC105375258
4 0.851 0.080 7 44149822 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1444739794
rs1444739794
GCK
3 0.925 0.080 7 44153324 missense variant A/G snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1481714420
rs1481714420
HNF4A ; MIR3646
2 0.925 0.080 20 44406169 missense variant G/C snv 4.0E-06 0.010 1.000 1 1998 1998