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: rs137853240
rs137853240
HNF1A
0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 0.917 0 2000 2011
dbSNP: rs141804752
rs141804752
MTNR1B
1.000 0.080 11 92969904 missense variant T/A;G snv 2.0E-05; 3.2E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs148311934
rs148311934
GCK ; LOC105375258
0.827 0.080 7 44149763 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1553878211
rs1553878211
RBPJ
0.925 0.080 4 26406269 missense variant A/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1555212014
rs1555212014
HNF1A
0.807 0.280 12 120994264 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs182349376
rs182349376
MTNR1B
1.000 0.080 11 92981507 missense variant C/A;T snv 3.6E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs184917682
rs184917682
MTNR1B
1.000 0.080 11 92982146 missense variant A/C;G snv 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs193922283
rs193922283
GCK
0.851 0.080 7 44145176 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs200998587
rs200998587
RBPJL
0.925 0.080 20 45314116 missense variant C/T snv 1.7E-03 4.0E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.710 1.000 0 2018 2018
dbSNP: rs267607196
rs267607196
KCNJ11
0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs387906779
rs387906779
MTNR1B
1.000 0.080 11 92969849 missense variant G/C snv 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs587777732
rs587777732
HNF4A ; MIR3646
0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs587780345
rs587780345
GCK ; LOC105375258
0.851 0.080 7 44150004 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs72559715
rs72559715
ABCC8
0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs72559734
rs72559734
ABCC8
0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs754729248
rs754729248
HNF1A
0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs769268803
rs769268803
GCK ; LOC105375258
0.851 0.080 7 44147747 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: rs80356661
rs80356661
PDX1
0.882 0.120 13 27924341 missense variant G/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1553784995
rs1553784995
SLC2A2
1.000 0.080 3 170998236 stop gained C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs1553876668
rs1553876668
WFS1
1.000 0.080 4 6289001 stop gained C/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs193922402
rs193922402
ABCC8
0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs72559722
rs72559722
ABCC8
0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs76474829
rs76474829
LOC105372630
1.000 0.080 20 45285365 intergenic variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs11196205
rs11196205
TCF7L2
0.827 0.200 10 113047288 intron variant G/A;C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 0.917 0 2006 2020
dbSNP: rs12255372
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.908 0 2006 2020