Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2000 2017
dbSNP: rs7612463
rs7612463
UBE2E2
3 0.925 0.080 3 23294959 intron variant C/A;G snv 0.840 0.889 9 2010 2018
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.090 1.000 9 2011 2015
dbSNP: rs972283
rs972283
LOC105375508
3 1.000 0.080 7 130782095 intergenic variant A/G;T snv 0.840 1.000 8 2010 2016
dbSNP: rs114202595
rs114202595
PAX4
4 0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06 0.850 1.000 7 2001 2013
dbSNP: rs1181860747
rs1181860747
INSR
10 0.776 0.240 19 7122961 missense variant C/T snv 0.070 1.000 7 2002 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 0.857 7 1997 2010
dbSNP: rs6815464
rs6815464
MAEA
2 0.925 0.120 4 1316113 intron variant C/G;T snv 0.840 1.000 7 2011 2019
dbSNP: rs952497863
rs952497863
HNF4A
4 0.925 0.080 20 44414511 missense variant C/T snv 0.070 1.000 7 2003 2017
dbSNP: rs137852783
rs137852783
PDX1
4 0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03 0.760 0.833 6 2000 2015
dbSNP: rs2237896
rs2237896
KCNQ1
1 1.000 0.080 11 2837210 intron variant G/A;T snv 0.810 1.000 6 2011 2019
dbSNP: rs2295490
rs2295490
TRIB3
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.060 1.000 6 2009 2016
dbSNP: rs35927125
rs35927125
KLF11
3 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 0.060 0.833 6 2005 2009
dbSNP: rs516946
rs516946
ANK1 ; MIR486-1
1 1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78 0.820 1.000 6 2012 2018
dbSNP: rs7034200
rs7034200
GLIS3
3 1.000 0.080 9 4289050 intron variant C/A;G snv 0.750 1.000 6 2011 2019
dbSNP: rs773641005
rs773641005
GOT2
14 0.742 0.240 16 58723829 missense variant T/C snv 0.060 0.667 6 1999 2017
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 0.833 6 1999 2018
dbSNP: rs121434581
rs121434581
SLC2A4
1 1.000 0.080 17 7285729 missense variant G/A;C snv 4.2E-03; 4.0E-06 0.700 1.000 5 1991 2013
dbSNP: rs1223493898
rs1223493898
HNF4A
5 0.851 0.120 20 44406090 missense variant G/A;C snv 0.050 1.000 5 2005 2012
dbSNP: rs1337503417
rs1337503417
KRT16
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.050 0.600 5 2000 2019
dbSNP: rs1466929132
rs1466929132
IAPP ; SLCO1A2
3 0.925 0.200 12 21378325 missense variant G/A;C snv 4.0E-06 0.050 1.000 5 1996 2019
dbSNP: rs1531343
rs1531343
RPSAP52
2 0.925 0.160 12 65781114 intron variant G/C;T snv 0.810 1.000 5 2010 2017
dbSNP: rs1801214
rs1801214
WFS1
1 1.000 0.080 4 6301295 missense variant C/A;G;T snv 0.67 0.810 1.000 5 2010 2018
dbSNP: rs1884613
rs1884613
LOC105372629
7 0.807 0.200 20 44351775 intron variant C/A;G;T snv 0.050 0.800 5 2008 2016
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.050 0.800 5 2012 2018