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: rs1764391
rs1764391
GJA4 ; SMIM12 ; LOC105378642
7 0.790 0.160 1 34795168 missense variant C/G;T snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2001 2001
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 2003 2003
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs1800777
rs1800777
CETP
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2011 2011
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs2066714
rs2066714
ABCA1
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2008 2008
dbSNP: rs2066718
rs2066718
ABCA1
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2008 2008
dbSNP: rs2293489
rs2293489
BUD23
2 0.925 0.120 7 73692949 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2295490
rs2295490
TRIB3
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2375981
rs2375981 		2 1.000 0.040 9 2692583 regulatory region variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs2639990
rs2639990
ZADH2
2 1.000 0.040 18 75203596 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
18 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
2 0.925 0.080 6 31271690 stop gained C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.010 1.000 1 2005 2005