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: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs2278986
rs2278986
SCARB1
2 0.925 0.120 12 124814823 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs7042521
rs7042521
CACNA1B ; LOC100133077
1 1.000 0.120 9 137889440 intron variant C/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs11137351
rs11137351
CACNA1B ; LOC101928786
1 1.000 0.120 9 138045676 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs10780199
rs10780199
CACNA1B
1 1.000 0.120 9 138058845 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs774320676
rs774320676
CTSS
1 1.000 0.120 1 150750091 missense variant A/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2275235
rs2275235
CTSS
1 1.000 0.120 1 150757803 intron variant A/G snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs928508030
rs928508030
CTSS
1 1.000 0.120 1 150765698 splice region variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2008 2017
dbSNP: rs1044009
rs1044009
NOTCH3
1 1.000 0.120 19 15160960 missense variant G/A snv 0.71 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1044006
rs1044006
NOTCH3
1 1.000 0.120 19 15174241 synonymous variant T/A;C snv 0.86 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1059703
rs1059703
IRAK1
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs2108622
rs2108622
CYP4F2
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs774229224
rs774229224
PLG
6 0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3861950
rs3861950
TNFSF4
7 0.827 0.160 1 173187153 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013