Source: BEFREE ×
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: rs1799963
rs1799963
F2
18 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.810 1.000 1 2001 2016
dbSNP: rs1122608
rs1122608
SMARCA4
12 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.710 1.000 1 2014 2014
dbSNP: rs4471613
rs4471613
ALDH1A2
2 1.000 0.080 15 58259495 intron variant G/A snv 4.3E-02 0.710 1.000 1 2015 2015
dbSNP: rs720470
rs720470
LOC105372798
1 21 37561586 intergenic variant T/C snv 0.28 0.710 1.000 1 2018 2018
dbSNP: rs72653706
rs72653706
ABCC6
14 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.710 1.000 1 2010 2010
dbSNP: rs780094
rs780094
GCKR
27 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.710 1.000 1 2010 2016
dbSNP: rs880315
rs880315
CASZ1
1 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.710 1.000 1 2017 2018
dbSNP: rs9521634
rs9521634
COL4A1
1 13 110181552 intron variant T/A;C snv 0.710 1.000 1 2018 2018
dbSNP: rs9797861
rs9797861
SLC44A2
6 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs9939609
rs9939609
FTO
80 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.710 1.000 1 2013 2016
dbSNP: rs1003346
rs1003346
TMEM245
2 1.000 9 109053060 intron variant C/A snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs10089084
rs10089084
IDO1
1 8 39912430 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1010
rs1010
VAMP8
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs10118757
rs10118757
MTAP
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs10423928
rs10423928
GIPR
7 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2011 2011
dbSNP: rs10432782
rs10432782
SOD1
7 0.807 0.160 21 31664078 intron variant T/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs10435816
rs10435816
IL33
2 1.000 0.080 9 6225535 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2015 2015
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs10478723
rs10478723
EDN1
1 6 12295228 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
13 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011