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: 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
dbSNP: rs2954029
rs2954029 		14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs33918808
rs33918808
ABCA1
1 1.000 0.040 9 104817351 missense variant C/G;T snv 3.5E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs3917643
rs3917643
F3
1 1.000 0.040 1 94536311 intron variant T/C snv 3.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4147929
rs4147929
ABCA7
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4359426
rs4359426
CCL22
3 0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94 0.010 1.000 1 2016 2016
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 2007 2007
dbSNP: rs4717806
rs4717806
STX1A ; BUD23 ; LOC105375350
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 2001 2001
dbSNP: rs4782371
rs4782371
ZFPM1
3 1.000 0.040 16 88502423 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017