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: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2019 2019
dbSNP: rs1805018
rs1805018
PLA2G7
6 0.827 0.200 6 46711566 missense variant A/G snv 6.8E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs1965708
rs1965708
SFTPA2
6 0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 0.010 1.000 1 2014 2014
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2014 2014
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2277212
rs2277212
CELF2
1 1.000 0.040 10 11257772 synonymous variant A/T snv 0.75 0.74 0.010 1.000 1 2016 2016
dbSNP: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs2515475
rs2515475
ANGPT2 ; MCPH1
1 1.000 0.040 8 6530918 intron variant C/T snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs2592178
rs2592178
TIA1 ; C2orf42
1 1.000 0.040 2 70245350 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs2606345
rs2606345
CYP1A1
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs28451617
rs28451617
CYP3A7 ; ZSCAN25 ; CYP3A7-CYP3A51P
4 0.851 0.120 7 99735142 5 prime UTR variant C/T snv 9.2E-03 3.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2012 2012
dbSNP: rs34568801
rs34568801
PLA2G2A
1 1.000 0.040 1 19975708 missense variant C/T snv 4.6E-03 4.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs3774934
rs3774934
NFKB1
4 0.851 0.080 4 102506319 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3814634
rs3814634
CELF2 ; CELF2-AS2
1 1.000 0.040 10 11099442 splice region variant G/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs3848719
rs3848719
ZNF335
1 1.000 0.040 20 45967906 synonymous variant G/A snv 0.33 0.32 0.010 1.000 1 2014 2014
dbSNP: rs4698803
rs4698803
EGF
1 1.000 0.040 4 109993271 missense variant A/G;T snv 0.85 0.010 1.000 1 2009 2009
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs516651
rs516651
EGLN1
1 1.000 0.040 1 231406910 intron variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs533117495
rs533117495
ABCB1
5 0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs61330082
rs61330082
NAMPT
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs6533485
rs6533485
EGF
1 1.000 0.040 4 110006407 intron variant G/C snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs672961
rs672961
LRRC7
1 1.000 0.040 1 70101505 intron variant C/G snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs7022797
rs7022797
S1PR3 ; C9orf47
3 0.882 0.120 9 88989548 upstream gene variant T/G snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs7068124
rs7068124
CELF2
1 1.000 0.040 10 11023453 intron variant T/C;G snv 0.010 1.000 1 2016 2016