Source: BEFREE

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 12 2000 2011
dbSNP: rs1884614
rs1884614
LOC105372629
0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 0.889 9 2004 2016
dbSNP: rs757110
rs757110
ABCC8
0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.790 0.900 9 1997 2018
dbSNP: rs952497863
rs952497863
HNF4A
0.925 0.080 20 44414511 missense variant C/T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 1.000 7 2003 2017
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 6 2000 2015
dbSNP: rs151290
rs151290
KCNQ1
1.000 0.080 11 2800385 intron variant A/C snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 0.833 6 2009 2019
dbSNP: rs2283228
rs2283228
KCNQ1
1.000 0.080 11 2828300 intron variant A/C snv 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 1.000 6 2009 2017
dbSNP: rs35927125
rs35927125
KLF11
0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.060 0.833 6 2005 2009
dbSNP: rs10886471
rs10886471
GRK5
1.000 0.080 10 119389891 intron variant C/T snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 1.000 5 2013 2018
dbSNP: rs1113132
rs1113132
EXT2
1.000 0.080 11 44231853 intron variant G/C snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 0.400 5 2012 2015
dbSNP: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 0.857 5 2004 2018
dbSNP: rs7034200
rs7034200
GLIS3
1.000 0.080 9 4289050 intron variant C/A;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.750 1.000 5 2011 2019
dbSNP: rs11037909
rs11037909
EXT2
1.000 0.080 11 44234064 intron variant T/C snv 0.32 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 0.500 4 2012 2015
dbSNP: rs11708067
rs11708067
ADCY5
0.882 0.080 3 123346931 intron variant A/G snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 0.875 4 2010 2018
dbSNP: rs13283456
rs13283456
PTGES2
0.925 0.080 9 128122474 missense variant C/A;T snv 4.0E-06; 0.13
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 1.000 4 2007 2009
dbSNP: rs2233580
rs2233580
PAX4
0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.740 0.833 4 2013 2019
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 1.000 4 2010 2019
dbSNP: rs3740878
rs3740878
EXT2
1.000 0.080 11 44236252 intron variant T/C snv 0.32 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 0.500 4 2012 2015
dbSNP: rs4810424
rs4810424
R3HDML
0.925 0.080 20 44346383 intron variant G/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 1.000 4 2006 2019
dbSNP: rs515071
rs515071
ANK1 ; MIR486-1
1.000 0.080 8 41661944 splice region variant A/G;T snv 0.78
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 1.000 4 2012 2017
dbSNP: rs5447
rs5447
GYS1
1.000 0.080 19 48977986 missense variant T/C snv 1.9E-02 1.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 0.500 4 1997 2003
dbSNP: rs7612463
rs7612463
UBE2E2
0.925 0.080 3 23294959 intron variant C/A;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 0.889 4 2010 2018
dbSNP: rs972283
rs972283
LOC105375508
1.000 0.080 7 130782095 intergenic variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 1.000 4 2010 2016
dbSNP: rs10885122
rs10885122 		1.000 0.080 10 111282335 intergenic variant T/G snv 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 1.000 3 2011 2013
dbSNP: rs1535500
rs1535500
KCNK16 ; KCNK17 ; LOC105375047
1.000 0.080 6 39316274 missense variant G/T snv 0.51 0.60
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.830 1.000 3 2011 2019