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: rs997509
rs997509
ENPP1
6 0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs945508
rs945508
ARHGEF11 ; LRRC71 ; MIR765
3 1.000 0.080 1 156937289 missense variant T/C snv 0.64 0.66 0.010 1.000 1 2008 2008
dbSNP: rs935907949
rs935907949
SH2B1
1 16 28867355 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs886205
rs886205
ALDH2
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs867232360
rs867232360
GCK
3 1.000 0.040 7 44145552 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 1.000 2 2004 2005
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.040 0.750 4 2006 2017
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs775018856
rs775018856
SLC2A4
2 1.000 0.080 17 7283304 synonymous variant G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs773641005
rs773641005
GOT2
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs760555162
rs760555162
GAPDH
2 1.000 0.080 12 6537178 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.010 1.000 1 2009 2009
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs72551362
rs72551362
PPARG
4 0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2017 2017
dbSNP: rs587783672
rs587783672
KCNJ11
5 0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.020 1.000 2 2009 2010
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.030 1.000 3 2004 2009
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs495490
rs495490
CDKN2B ; CDKN2B-AS1
2 1.000 0.080 9 22010413 intron variant A/G snv 6.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2009 2009
dbSNP: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.020 1.000 2 2010 2014