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: 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: rs17446593
rs17446593 		2 1.000 0.080 13 40553948 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
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: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 1999 1999
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2006
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1799999
rs1799999
PPP1R3A
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.010 < 0.001 1 2000 2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs1801278
rs1801278
IRS1
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 1998 1998
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2000 2012
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: rs1805094
rs1805094
LEPR
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2001 2001
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: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2000 2012
dbSNP: rs1884614
rs1884614
LOC105372629
5 0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18 0.010 1.000 1 2004 2004
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: rs2073162
rs2073162
TNMD
2 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2007 2007
dbSNP: rs2233580
rs2233580
PAX4
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs2278426
rs2278426
ANGPTL8 ; DOCK6
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.010 1.000 1 2019 2019
dbSNP: rs2293855
rs2293855
MTMR9
5 0.851 0.120 8 11319901 non coding transcript exon variant G/A snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2297627
rs2297627
FOXO1
3 0.925 0.120 13 40659794 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs2721068
rs2721068
FOXO1
4 0.882 0.160 13 40565575 intron variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs2920502
rs2920502
PPARG
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs33954001
rs33954001
SLC5A1 ; LOC105373000
2 1.000 0.120 22 32110063 missense variant C/G;T snv 4.8E-02; 2.4E-05 0.010 1.000 1 2018 2018