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: rs117603931
rs117603931
ABCA3
4 0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs146709251
rs146709251
ABCA3
3 0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2012 2012
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: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2018 2019
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: 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: rs78142040
rs78142040
ARSD
1 1.000 0.040 X 2914730 non coding transcript exon variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs10905928
rs10905928
CELF2
1 1.000 0.040 10 11300924 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
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: rs7068124
rs7068124
CELF2
1 1.000 0.040 10 11023453 intron variant T/C;G snv 0.010 1.000 1 2016 2016
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: 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: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1799946
rs1799946
DEFB1
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 0.010 1.000 1 2019 2019
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: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
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: 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: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.010 1.000 1 2009 2009
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: 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: 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: rs782230926
rs782230926
HAP1
1 1.000 0.040 17 41734538 missense variant G/T snv 8.4E-06 7.0E-06 0.010 1.000 1 2009 2009