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: rs1259467443
rs1259467443
IRS1
1.000 0.080 2 226796570 inframe deletion ACC/- delins 8.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1554901596
rs1554901596
KCNJ11
0.925 0.080 11 17387124 frameshift variant -/C delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1554948310
rs1554948310
ABCC8
0.827 0.160 11 17474884 splice donor variant A/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs371977235
rs371977235
SLC2A2
1.000 0.080 3 171005284 splice donor variant C/T snv 8.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs2975760
rs2975760
CAPN10
1.000 0.080 2 240591746 non coding transcript exon variant T/C snv 0.12
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.730 1.000 0 2006 2014
dbSNP: rs3792267
rs3792267
CAPN10
0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.770 0.857 0 2006 2016
dbSNP: rs104893642
rs104893642
IRS1
1.000 0.080 2 226796916 missense variant G/A;C snv 1.5E-05; 5.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.710 1.000 0 2003 2003
dbSNP: rs104893649
rs104893649
NEUROD1 ; CERKL
1.000 0.080 2 181678529 missense variant C/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 0 1999 2013
dbSNP: rs114202595
rs114202595
PAX4
0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 1.000 0 2001 2013
dbSNP: rs119489103
rs119489103
MAPK8IP1
1.000 0.080 11 45898159 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 0 2012 2013
dbSNP: rs121434593
rs121434593
AKT2
1.000 0.080 19 40237979 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 0 2004 2013
dbSNP: rs121913150
rs121913150
INSR
1.000 0.080 19 7120707 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 0 1992 2013
dbSNP: rs121918407
rs121918407
GPD2
1.000 0.080 2 156579109 missense variant T/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs121918673
rs121918673
HNF1B
0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 0 2002 2013
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 0.973 0 2007 2019
dbSNP: rs1360415315
rs1360415315
GCK ; LOC105375258
0.851 0.080 7 44149772 missense variant C/G;T snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs137852673
rs137852673
ABCC8
0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs137852674
rs137852674
ABCC8
0.925 0.120 11 17430887 missense variant G/C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs137852783
rs137852783
PDX1
0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 0.833 0 2000 2015
dbSNP: rs137852784
rs137852784
PDX1
0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs137852785
rs137852785
PDX1
0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.710 1.000 0 2002 2002
dbSNP: rs137852786
rs137852786
PDX1
1.000 0.080 13 27924439 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.720 1.000 0 1999 2002
dbSNP: rs137853236
rs137853236
HNF1A
0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0