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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2008 2011
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2008 2011
dbSNP: rs765798193
rs765798193
PSMD9
0.732 0.320 12 121915884 frameshift variant G/-;GG delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.090 1.000 9 2011 2015
dbSNP: rs146052672
rs146052672
HMGA1
0.851 0.160 6 34242693 intron variant -/C delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 1.000 4 2013 2017
dbSNP: rs3842570
rs3842570
CAPN10
0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.720 1.000 2 2010 2011
dbSNP: rs10524523
rs10524523
TOMM40
0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2014 2014
dbSNP: rs140130268
rs140130268
STARD10 ; ARAP1
1.000 0.080 11 72759871 intron variant GTTT/- delins 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016
dbSNP: rs1799774
rs1799774
ENPP1
0.882 0.200 6 131882331 intron variant T/- delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2006 2006
dbSNP: rs2066847
rs2066847
NOD2
0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2017 2017
dbSNP: rs753056119
rs753056119
HNF4A
1.000 0.080 20 44424348 frameshift variant C/- delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2019 2019
dbSNP: rs869109213
rs869109213
NOS3
0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs7903146
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.953 160 2006 2020
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.902 118 1997 2018
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.893 103 1997 2018
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 60 2006 2020
dbSNP: rs5219
rs5219
KCNJ11
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.906 60 1998 2019
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 57 2007 2019
dbSNP: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.961 45 2007 2019
dbSNP: rs1801278
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.841 44 1994 2019
dbSNP: rs4994
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.882 34 1995 2017
dbSNP: rs8192678
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.879 33 2001 2020
dbSNP: rs10811661
rs10811661 		0.724 0.400 9 22134095 intergenic variant T/C snv 0.14
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.955 32 2007 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 0.938 32 1999 2019
dbSNP: rs4402960
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 0.977 32 2007 2018