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: rs200027152
rs200027152
UCP2
2 0.925 0.120 11 73975612 missense variant C/T snv 8.0E-05 4.9E-05 0.010 < 0.001 1 1998 1998
dbSNP: rs372624970
rs372624970
HNF1A
1 1.000 0.080 12 120999376 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs775831954
rs775831954
ACACA
1 1.000 0.080 17 37248015 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs777986828
rs777986828
ABCC8
1 1.000 0.080 11 17428312 missense variant C/T snv 2.0E-05 9.8E-05 0.010 1.000 1 1998 1998
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 32 1999 2019
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.100 0.850 20 1999 2017
dbSNP: rs1801262
rs1801262
NEUROD1 ; CERKL
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.080 0.750 8 1999 2013
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: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.050 0.800 5 1999 2017
dbSNP: rs104893649
rs104893649
NEUROD1 ; CERKL
1 1.000 0.080 2 181678529 missense variant C/A snv 0.800 1.000 3 1999 2013
dbSNP: rs137852786
rs137852786
PDX1
1 1.000 0.080 13 27924439 missense variant G/A snv 0.720 1.000 2 1999 2002
dbSNP: rs1159931590
rs1159931590
HNF4A
1 1.000 0.080 20 44414655 missense variant A/G snv 4.3E-06 0.010 1.000 1 1999 1999
dbSNP: rs1486917678
rs1486917678
HNF4A
1 1.000 0.080 20 44424101 missense variant C/T snv 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs74805019
rs74805019
ONECUT1 ; LOC105370824
1 1.000 0.080 15 52789662 missense variant G/C snv 2.3E-02 2.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs8191979
rs8191979
SHC1
3 0.882 0.160 1 154966186 missense variant T/A;C snv 4.0E-06; 4.1E-02 0.010 1.000 1 1999 1999
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.944 18 2000 2019
dbSNP: rs137853240
rs137853240
HNF1A
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.800 0.917 12 2000 2011
dbSNP: rs1805097
rs1805097
IRS2
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.100 1.000 12 2000 2017
dbSNP: rs16139
rs16139
NPY ; LOC107986777
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.100 1.000 11 2000 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2000 2017
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.070 0.857 7 2000 2013
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: 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: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.020 1.000 2 2000 2006