Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs777870079
rs777870079
GCK
1.000 0.080 7 44145602 stop gained G/A;T snv 4.3E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.810 1.000 0 1992 2014
dbSNP: rs1085307455
rs1085307455
GCK ; LOC105375258
0.925 0.080 7 44149977 missense variant G/A;T snv 8.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 12 1992 2014
dbSNP: rs148311934
rs148311934
GCK ; LOC105375258
0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 4 1992 2014
dbSNP: rs193922264
rs193922264
GCK
1.000 0.080 7 44145620 missense variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 3 1992 2018
dbSNP: rs104894005
rs104894005
GCK ; LOC105375258
1.000 0.080 7 44147678 stop gained C/A;G;T snv 4.0E-06; 1.1E-04
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs104894008
rs104894008
GCK ; LOC105375258
0.882 0.080 7 44147732 missense variant C/G;T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs104894009
rs104894009
GCK ; LOC105375258
0.882 0.120 7 44146587 missense variant C/G snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs104894010
rs104894010
GCK
1.000 0.080 7 44151048 missense variant A/G snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs104894016
rs104894016
GCK
1.000 0.080 7 44145618 missense variant C/G;T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs193922272
rs193922272
GCK
1.000 0.080 7 44145510 missense variant T/C snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs193922289
rs193922289
GCK
0.882 0.080 7 44152420 missense variant C/T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs193922297
rs193922297
GCK
1.000 0.080 7 44150990 missense variant A/G;T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs193922317
rs193922317
GCK ; LOC105375258
0.925 0.080 7 44149778 missense variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 0
dbSNP: rs587780345
rs587780345
GCK ; LOC105375258
0.851 0.080 7 44150004 missense variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs762263694
rs762263694
GCK
0.925 0.080 7 44153403 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs769268803
rs769268803
GCK ; LOC105375258
0.851 0.080 7 44147747 missense variant C/G;T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs80356654
rs80356654
GCK ; LOC105375258
0.925 0.080 7 44149810 missense variant A/G;T snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs80356655
rs80356655
GCK ; LOC105375258
0.925 0.080 7 44147830 missense variant G/A snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.800 1.000 0 1992 2014
dbSNP: rs193922287
rs193922287
GCK
0.925 0.080 7 44153334 missense variant G/A snv 4.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.710 1.000 0 2013 2013
dbSNP: rs1064793998
rs1064793998
GCK
0.882 0.080 7 44153325 missense variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.700 1.000 8 1998 2016
dbSNP: rs1057524905
rs1057524905
GCK ; LOC105375258
0.882 0.080 7 44147834 splice acceptor variant C/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.700 1.000 4 2003 2009
dbSNP: rs1057524902
rs1057524902
GCK
0.882 0.080 7 44145495 splice donor variant A/T snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.700 1.000 3 2003 2009
dbSNP: rs1057524904
rs1057524904
GCK ; LOC105375258
0.882 0.080 7 44147765 missense variant G/A snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.700 1.000 3 2007 2009
dbSNP: rs1064794268
rs1064794268
GCK
0.925 0.080 7 44153396 missense variant T/G snv
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.700 1.000 3 2000 2014
dbSNP: rs193922331
rs193922331
GCK ; LOC105375258
0.882 0.080 7 44147726 missense variant A/G snv 7.0E-06
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		0.700 1.000 3 2002 2012