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: 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: rs4402960
rs4402960
IGF2BP2
21 0.724 0.400 3 185793899 intron variant G/T snv 0.38 0.020 1.000 2 2010 2014
dbSNP: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2009 2009
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: rs1805097
rs1805097
IRS2
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.020 0.500 2 2001 2003
dbSNP: rs1111875
rs1111875 		10 0.776 0.360 10 92703125 intergenic variant C/T snv 0.36 0.010 1.000 1 2014 2014
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: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs3851179
rs3851179 		15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.010 1.000 1 2017 2017
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: rs1181860747
rs1181860747
INSR
10 0.776 0.240 19 7122961 missense variant C/T snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1693482
rs1693482
ADH1B ; ADH1C
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2010 2010
dbSNP: rs17446614
rs17446614
FOXO1
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs3813929
rs3813929
HTR2C
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs773641005
rs773641005
GOT2
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 1.000 1 1999 1999
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: rs3816873
rs3816873
MTTP
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2006 2006
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: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.030 0.667 3 1995 1996
dbSNP: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2010 2013
dbSNP: rs1049673
rs1049673
CD36
7 0.807 0.160 7 80677034 3 prime UTR variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs121909244
rs121909244
PPARG
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016