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: rs1883414
rs1883414
HLA-DPB2
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs2412971
rs2412971
HORMAD2
5 0.882 0.320 22 30098382 intron variant G/A snv 0.55 0.800 1.000 1 2011 2011
dbSNP: rs3115573
rs3115573 		2 1.000 0.120 6 32251066 upstream gene variant A/G snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs9275596
rs9275596 		7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.800 1.000 1 2011 2011
dbSNP: rs9357155
rs9357155
PSMB8
2 1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs9275224
rs9275224 		5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424 		1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 15 1996 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.909 11 2007 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.080 1.000 8 1999 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 0.667 6 1999 2012
dbSNP: rs2268388
rs2268388
ACACB
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.040 1.000 4 2013 2015
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.750 4 1998 2000
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2001 2014
dbSNP: rs11643718
rs11643718
SLC12A3
10 0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02 0.020 1.000 2 2003 2016
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.020 1.000 2 2014 2017
dbSNP: rs17880135
rs17880135
SCAF4
1 21 31669690 upstream gene variant T/G snv 3.9E-02 0.020 1.000 2 2008 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2014
dbSNP: rs1800764
rs1800764 		10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2005 2009
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2007 2012
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2007 2012
dbSNP: rs2276415
rs2276415
CLNS1A ; AQP11
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.020 1.000 2 2016 2019
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2008 2016